dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs4148323
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:233760498 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.006928 (2233/322320, ALFA)A=0.010023 (2653/264690, TOPMED)A=0.022348 (5619/251430, GnomAD_exome) (+ 23 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
UGT1A1 : Missense VariantUGT1A10 : Intron VariantUGT1A3 : Intron Variant (+ 6 more)
- Publications
- 90 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 338730 | G=0.993331 | A=0.006669 |
| European | Sub | 280628 | G=0.998543 | A=0.001457 |
| African | Sub | 14330 | G=0.99888 | A=0.00112 |
| African Others | Sub | 516 | G=1.000 | A=0.000 |
| African American | Sub | 13814 | G=0.99884 | A=0.00116 |
| Asian | Sub | 7018 | G=0.8356 | A=0.1644 |
| East Asian | Sub | 5018 | G=0.8181 | A=0.1819 |
| Other Asian | Sub | 2000 | G=0.8795 | A=0.1205 |
| Latin American 1 | Sub | 1536 | G=0.9993 | A=0.0007 |
| Latin American 2 | Sub | 7254 | G=0.9789 | A=0.0211 |
| South Asian | Sub | 5238 | G=0.9826 | A=0.0174 |
| Other | Sub | 22726 | G=0.98086 | A=0.01914 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 322320 | G=0.993072 | A=0.006928 |
| Allele Frequency Aggregator | European | Sub | 270490 | G=0.998554 | A=0.001446 |
| Allele Frequency Aggregator | Other | Sub | 21292 | G=0.97976 | A=0.02024 |
| Allele Frequency Aggregator | African | Sub | 9492 | G=0.9987 | A=0.0013 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7254 | G=0.9789 | A=0.0211 |
| Allele Frequency Aggregator | Asian | Sub | 7018 | G=0.8356 | A=0.1644 |
| Allele Frequency Aggregator | South Asian | Sub | 5238 | G=0.9826 | A=0.0174 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1536 | G=0.9993 | A=0.0007 |
| TopMed | Global | Study-wide | 264690 | G=0.989977 | A=0.010023 |
| gnomAD - Exomes | Global | Study-wide | 251430 | G=0.977652 | A=0.022348 |
| gnomAD - Exomes | European | Sub | 135364 | G=0.990958 | A=0.009042 |
| gnomAD - Exomes | Asian | Sub | 49010 | G=0.93003 | A=0.06997 |
| gnomAD - Exomes | American | Sub | 34592 | G=0.97595 | A=0.02405 |
| gnomAD - Exomes | African | Sub | 16244 | G=0.99914 | A=0.00086 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=0.99474 | A=0.00526 |
| gnomAD - Exomes | Other | Sub | 6140 | G=0.9891 | A=0.0109 |
| gnomAD - Genomes | Global | Study-wide | 140286 | G=0.991090 | A=0.008910 |
| gnomAD - Genomes | European | Sub | 75958 | G=0.99234 | A=0.00766 |
| gnomAD - Genomes | African | Sub | 42058 | G=0.99919 | A=0.00081 |
| gnomAD - Genomes | American | Sub | 13666 | G=0.98829 | A=0.01171 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.9967 | A=0.0033 |
| gnomAD - Genomes | East Asian | Sub | 3130 | G=0.8581 | A=0.1419 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.9912 | A=0.0088 |
| ExAC | Global | Study-wide | 121322 | G=0.979336 | A=0.020664 |
| ExAC | Europe | Sub | 73312 | G=0.99261 | A=0.00739 |
| ExAC | Asian | Sub | 25150 | G=0.93515 | A=0.06485 |
| ExAC | American | Sub | 11574 | G=0.97399 | A=0.02601 |
| ExAC | African | Sub | 10380 | G=0.99913 | A=0.00087 |
| ExAC | Other | Sub | 906 | G=0.974 | A=0.026 |
| The PAGE Study | Global | Study-wide | 78702 | G=0.97452 | A=0.02548 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.99902 | A=0.00098 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.97928 | A=0.02072 |
| The PAGE Study | Asian | Sub | 8318 | G=0.8357 | A=0.1643 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9996 | A=0.0004 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9444 | A=0.0556 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.9983 | A=0.0017 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.9997 | A=0.0003 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9759 | A=0.0241 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9904 | A=0.0096 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9865 | A=0.0135 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.972 | A=0.028 |
| 14KJPN | JAPANESE | Study-wide | 28256 | G=0.81983 | A=0.18017 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.81945 | A=0.18055 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9681 | A=0.0319 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9994 | A=0.0006 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.9945 | A=0.0055 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9809 | A=0.0191 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.8632 | A=0.1368 |
| 1000Genomes_30x | American | Sub | 980 | G=0.987 | A=0.013 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9657 | A=0.0343 |
| 1000Genomes | African | Sub | 1322 | G=0.9992 | A=0.0008 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.8621 | A=0.1379 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9930 | A=0.0070 |
| 1000Genomes | South Asian | Sub | 978 | G=0.983 | A=0.017 |
| 1000Genomes | American | Sub | 694 | G=0.988 | A=0.012 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9931 | A=0.0069 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9990 | A=0.0010 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9992 | A=0.0008 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3296 | G=0.9688 | A=0.0312 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3296 | G=0.9688 | A=0.0312 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.8313 | A=0.1687 |
| PharmGKB Aggregated | Global | Study-wide | 1086 | G=0.9282 | A=0.0718 |
| PharmGKB Aggregated | PA142178459 | Sub | 588 | G=0.930 | A=0.070 |
| PharmGKB Aggregated | PA147449586 | Sub | 354 | G=0.924 | A=0.076 |
| PharmGKB Aggregated | PA130445541 | Sub | 144 | G=0.931 | A=0.069 |
| HapMap | Global | Study-wide | 930 | G=0.918 | A=0.082 |
| HapMap | American | Sub | 558 | G=0.937 | A=0.063 |
| HapMap | Asian | Sub | 252 | G=0.837 | A=0.163 |
| HapMap | African | Sub | 120 | G=1.000 | A=0.000 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | G=0.801 | A=0.199 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | G=0.801 | A=0.199 |
| Chileans | Chilean | Study-wide | 626 | G=0.984 | A=0.016 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | G=0.894 | A=0.106 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.985 | A=0.015 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.998 | A=0.002 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.970 | A=0.030 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 72 | G=1.00 | A=0.00 |
| SGDP_PRJ | Global | Study-wide | 48 | G=0.42 | A=0.58 |
| Siberian | Global | Study-wide | 10 | G=0.3 | A=0.7 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.233760498G>A |
| GRCh38.p14 chr 2 | NC_000002.12:g.233760498G>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.234669144G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.234669144G>C |
| UGT1A RefSeqGene | NG_002601.2:g.175755G>A |
| UGT1A RefSeqGene | NG_002601.2:g.175755G>C |
| UGT1A1 RefSeqGene (LRG_733) | NG_033238.1:g.5226G>A |
| UGT1A1 RefSeqGene (LRG_733) | NG_033238.1:g.5226G>C |
Gene: UGT1A6, UDP glucuronosyltransferase family 1 member A6
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A6 transcript variant 1 | NM_001072.4:c.862-6536G>A | N/A | Intron Variant |
| UGT1A6 transcript variant 2 | NM_205862.3:c.61-6536G>A | N/A | Intron Variant |
Gene: UGT1A4, UDP glucuronosyltransferase family 1 member A4
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A4 transcript | NM_007120.3:c.868-6536G>A | N/A | Intron Variant |
Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A10 transcript | NM_019075.4:c.856-6536G>A | N/A | Intron Variant |
Gene: UGT1A8, UDP glucuronosyltransferase family 1 member A8
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A8 transcript | NM_019076.5:c.856-6536G>A | N/A | Intron Variant |
Gene: UGT1A7, UDP glucuronosyltransferase family 1 member A7
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A7 transcript | NM_019077.3:c.856-6536G>A | N/A | Intron Variant |
Gene: UGT1A5, UDP glucuronosyltransferase family 1 member A5
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A5 transcript | NM_019078.2:c.868-6536G>A | N/A | Intron Variant |
Gene: UGT1A3, UDP glucuronosyltransferase family 1 member A3
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A3 transcript | NM_019093.4:c.868-6536G>A | N/A | Intron Variant |
Gene: UGT1A9, UDP glucuronosyltransferase family 1 member A9
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A9 transcript | NM_021027.3:c.856-6536G>A | N/A | Intron Variant |
Gene: UGT1A1, UDP glucuronosyltransferase family 1 member A1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT1A1 transcript | NM_000463.3:c.211G>A | G [GGA] > R [AGA] | Coding Sequence Variant |
| UDP-glucuronosyltransferase 1A1 precursor | NP_000454.1:p.Gly71Arg | G (Gly) > R (Arg) | Missense Variant |
| UGT1A1 transcript | NM_000463.3:c.211G>C | G [GGA] > R [CGA] | Coding Sequence Variant |
| UDP-glucuronosyltransferase 1A1 precursor | NP_000454.1:p.Gly71Arg | G (Gly) > R (Arg) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
27319
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013071.39 | Gilbert syndrome | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000022810.25 | Lucey-Driscoll syndrome | Pathogenic |
| RCV000022811.3 | Bilirubin, serum level of, quantitative trait locus 1 | Association |
| RCV000173139.10 | not specified | Benign-Likely-Benign |
| RCV000664403.3 | Irinotecan response | Drug-Response |
| RCV000987059.2 | Crigler-Najjar syndrome, type II | Likely-Pathogenic |
| RCV001508487.9 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.233760498= | NC_000002.12:g.233760498G>A | NC_000002.12:g.233760498G>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.234669144= | NC_000002.11:g.234669144G>A | NC_000002.11:g.234669144G>C |
| UGT1A RefSeqGene | NG_002601.2:g.175755= | NG_002601.2:g.175755G>A | NG_002601.2:g.175755G>C |
| UGT1A1 transcript | NM_000463.2:c.211= | NM_000463.2:c.211G>A | NM_000463.2:c.211G>C |
| UGT1A1 transcript | NM_000463.3:c.211= | NM_000463.3:c.211G>A | NM_000463.3:c.211G>C |
| UGT1A1 RefSeqGene (LRG_733) | NG_033238.1:g.5226= | NG_033238.1:g.5226G>A | NG_033238.1:g.5226G>C |
| UDP-glucuronosyltransferase 1A1 precursor | NP_000454.1:p.Gly71= | NP_000454.1:p.Gly71Arg | NP_000454.1:p.Gly71Arg |
| UGT1A6 transcript variant 1 | NM_001072.3:c.862-6536= | NM_001072.3:c.862-6536G>A | NM_001072.3:c.862-6536G>C |
| UGT1A6 transcript variant 1 | NM_001072.4:c.862-6536= | NM_001072.4:c.862-6536G>A | NM_001072.4:c.862-6536G>C |
| UGT1A4 transcript | NM_007120.2:c.868-6536= | NM_007120.2:c.868-6536G>A | NM_007120.2:c.868-6536G>C |
| UGT1A4 transcript | NM_007120.3:c.868-6536= | NM_007120.3:c.868-6536G>A | NM_007120.3:c.868-6536G>C |
| UGT1A10 transcript | NM_019075.2:c.856-6536= | NM_019075.2:c.856-6536G>A | NM_019075.2:c.856-6536G>C |
| UGT1A10 transcript | NM_019075.4:c.856-6536= | NM_019075.4:c.856-6536G>A | NM_019075.4:c.856-6536G>C |
| UGT1A8 transcript | NM_019076.4:c.856-6536= | NM_019076.4:c.856-6536G>A | NM_019076.4:c.856-6536G>C |
| UGT1A8 transcript | NM_019076.5:c.856-6536= | NM_019076.5:c.856-6536G>A | NM_019076.5:c.856-6536G>C |
| UGT1A7 transcript | NM_019077.2:c.856-6536= | NM_019077.2:c.856-6536G>A | NM_019077.2:c.856-6536G>C |
| UGT1A7 transcript | NM_019077.3:c.856-6536= | NM_019077.3:c.856-6536G>A | NM_019077.3:c.856-6536G>C |
| UGT1A5 transcript | NM_019078.1:c.868-6536= | NM_019078.1:c.868-6536G>A | NM_019078.1:c.868-6536G>C |
| UGT1A5 transcript | NM_019078.2:c.868-6536= | NM_019078.2:c.868-6536G>A | NM_019078.2:c.868-6536G>C |
| UGT1A3 transcript | NM_019093.2:c.868-6536= | NM_019093.2:c.868-6536G>A | NM_019093.2:c.868-6536G>C |
| UGT1A3 transcript | NM_019093.4:c.868-6536= | NM_019093.4:c.868-6536G>A | NM_019093.4:c.868-6536G>C |
| UGT1A9 transcript | NM_021027.2:c.856-6536= | NM_021027.2:c.856-6536G>A | NM_021027.2:c.856-6536G>C |
| UGT1A9 transcript | NM_021027.3:c.856-6536= | NM_021027.3:c.856-6536G>A | NM_021027.3:c.856-6536G>C |
| UGT1A6 transcript variant 2 | NM_205862.1:c.61-6536= | NM_205862.1:c.61-6536G>A | NM_205862.1:c.61-6536G>C |
| UGT1A6 transcript variant 2 | NM_205862.3:c.61-6536= | NM_205862.3:c.61-6536G>A | NM_205862.3:c.61-6536G>C |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
143 SubSNP,
26 Frequency,
7 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | RIKENSNPRC | ss5602103 | Dec 16, 2002 (110) |
| 2 | EGP_SNPS | ss50393216 | Mar 13, 2006 (126) |
| 3 | KRIBB_YJKIM | ss65832337 | Nov 29, 2006 (127) |
| 4 | AFFY | ss66049762 | Nov 29, 2006 (127) |
| 5 | PERLEGEN | ss68846590 | May 16, 2007 (127) |
| 6 | PHARMGKB_PAAR-UCHI | ss69367663 | May 16, 2007 (127) |
| 7 | PHARMGKB_PAAR-UCHI | ss69369244 | May 16, 2007 (127) |
| 8 | ILLUMINA | ss74871467 | Dec 07, 2007 (129) |
| 9 | AFFY | ss75953376 | Dec 07, 2007 (129) |
| 10 | KRIBB_YJKIM | ss81999514 | Dec 14, 2007 (130) |
| 11 | PHARMGKB_AB_DME | ss84169589 | Dec 15, 2007 (130) |
| 12 | SNP500CANCER | ss105439990 | Feb 05, 2009 (130) |
| 13 | ILLUMINA | ss154283843 | Dec 01, 2009 (131) |
| 14 | GMI | ss154868076 | Dec 01, 2009 (131) |
| 15 | ILLUMINA | ss159460751 | Dec 01, 2009 (131) |
| 16 | SEATTLESEQ | ss159704053 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss160664235 | Dec 01, 2009 (131) |
| 18 | AFFY | ss169611436 | Jul 04, 2010 (132) |
| 19 | ILLUMINA | ss173693216 | Jul 04, 2010 (132) |
| 20 | 1000GENOMES | ss239083135 | Jul 15, 2010 (132) |
| 21 | ILLUMINA | ss244298922 | Jul 04, 2010 (132) |
| 22 | OMICIA | ss244317396 | Jun 16, 2010 (132) |
| 23 | GMI | ss276944166 | May 04, 2012 (137) |
| 24 | NHLBI-ESP | ss342105632 | May 09, 2011 (134) |
| 25 | ILLUMINA | ss480582779 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss480898220 | May 04, 2012 (137) |
| 27 | ILLUMINA | ss480917088 | May 04, 2012 (137) |
| 28 | ILLUMINA | ss481871527 | Sep 08, 2015 (146) |
| 29 | ILLUMINA | ss484037560 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss485244105 | May 04, 2012 (137) |
| 31 | 1000GENOMES | ss489858455 | May 04, 2012 (137) |
| 32 | EXOME_CHIP | ss491333412 | May 04, 2012 (137) |
| 33 | CLINSEQ_SNP | ss491802742 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss537217137 | Sep 08, 2015 (146) |
| 35 | OMIM-CURATED-RECORDS | ss537712803 | Feb 20, 2013 (137) |
| 36 | SSMP | ss649966239 | Apr 25, 2013 (138) |
| 37 | ILLUMINA | ss778903236 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss779213264 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss780811926 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss781266970 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss783067998 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss783493831 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss784025899 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss832326076 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss832972255 | Jul 13, 2019 (153) |
| 46 | ILLUMINA | ss834364508 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss834679121 | Sep 08, 2015 (146) |
| 48 | JMKIDD_LAB | ss974446272 | Aug 21, 2014 (142) |
| 49 | JMKIDD_LAB | ss1067446642 | Aug 21, 2014 (142) |
| 50 | JMKIDD_LAB | ss1070036235 | Aug 21, 2014 (142) |
| 51 | 1000GENOMES | ss1302134509 | Aug 21, 2014 (142) |
| 52 | EVA_FINRISK | ss1584024824 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1606057645 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1649051678 | Apr 01, 2015 (144) |
| 55 | EVA_EXAC | ss1686799458 | Apr 01, 2015 (144) |
| 56 | EVA_MGP | ss1711001336 | Apr 01, 2015 (144) |
| 57 | EVA_SVP | ss1712539936 | Apr 01, 2015 (144) |
| 58 | ILLUMINA | ss1752345221 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss1752345222 | Sep 08, 2015 (146) |
| 60 | ILLUMINA | ss1917761546 | Feb 12, 2016 (147) |
| 61 | ILLUMINA | ss1946070033 | Feb 12, 2016 (147) |
| 62 | ILLUMINA | ss1958518580 | Feb 12, 2016 (147) |
| 63 | ILLUMINA | ss2094809167 | Dec 20, 2016 (150) |
| 64 | ILLUMINA | ss2095111601 | Dec 20, 2016 (150) |
| 65 | USC_VALOUEV | ss2149282514 | Dec 20, 2016 (150) |
| 66 | HUMAN_LONGEVITY | ss2240160686 | Dec 20, 2016 (150) |
| 67 | SYSTEMSBIOZJU | ss2625108463 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss2633755415 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2633755416 | Nov 08, 2017 (151) |
| 70 | ILLUMINA | ss2633755417 | Nov 08, 2017 (151) |
| 71 | GRF | ss2703935219 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2710928949 | Nov 08, 2017 (151) |
| 73 | GNOMAD | ss2733431817 | Nov 08, 2017 (151) |
| 74 | GNOMAD | ss2746910143 | Nov 08, 2017 (151) |
| 75 | GNOMAD | ss2787712063 | Nov 08, 2017 (151) |
| 76 | AFFY | ss2985203951 | Nov 08, 2017 (151) |
| 77 | AFFY | ss2985825273 | Nov 08, 2017 (151) |
| 78 | SWEGEN | ss2991558430 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss3022083120 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3625779653 | Oct 11, 2018 (152) |
| 81 | ILLUMINA | ss3628314202 | Oct 11, 2018 (152) |
| 82 | ILLUMINA | ss3628314203 | Oct 11, 2018 (152) |
| 83 | ILLUMINA | ss3631714590 | Oct 11, 2018 (152) |
| 84 | ILLUMINA | ss3631714591 | Oct 11, 2018 (152) |
| 85 | ILLUMINA | ss3633238542 | Oct 11, 2018 (152) |
| 86 | ILLUMINA | ss3633951937 | Oct 11, 2018 (152) |
| 87 | ILLUMINA | ss3634818218 | Oct 11, 2018 (152) |
| 88 | ILLUMINA | ss3634818219 | Oct 11, 2018 (152) |
| 89 | ILLUMINA | ss3636508288 | Oct 11, 2018 (152) |
| 90 | ILLUMINA | ss3637389325 | Oct 11, 2018 (152) |
| 91 | ILLUMINA | ss3638325647 | Oct 11, 2018 (152) |
| 92 | ILLUMINA | ss3640525517 | Oct 11, 2018 (152) |
| 93 | ILLUMINA | ss3640525518 | Oct 11, 2018 (152) |
| 94 | ILLUMINA | ss3643289840 | Oct 11, 2018 (152) |
| 95 | ILLUMINA | ss3644772737 | Oct 11, 2018 (152) |
| 96 | ILLUMINA | ss3652535925 | Oct 11, 2018 (152) |
| 97 | ILLUMINA | ss3652535926 | Oct 11, 2018 (152) |
| 98 | ILLUMINA | ss3653971970 | Oct 11, 2018 (152) |
| 99 | EGCUT_WGS | ss3659455952 | Jul 13, 2019 (153) |
| 100 | EVA_DECODE | ss3706266239 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3725884825 | Jul 13, 2019 (153) |
| 102 | ACPOP | ss3729481020 | Jul 13, 2019 (153) |
| 103 | ILLUMINA | ss3744488888 | Jul 13, 2019 (153) |
| 104 | ILLUMINA | ss3745118107 | Jul 13, 2019 (153) |
| 105 | ILLUMINA | ss3745118108 | Jul 13, 2019 (153) |
| 106 | EVA | ss3758234703 | Jul 13, 2019 (153) |
| 107 | PAGE_CC | ss3770996301 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3772614482 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3772614483 | Jul 13, 2019 (153) |
| 110 | KHV_HUMAN_GENOMES | ss3802597187 | Jul 13, 2019 (153) |
| 111 | EVA | ss3823868927 | Apr 25, 2020 (154) |
| 112 | EVA | ss3825622234 | Apr 25, 2020 (154) |
| 113 | SGDP_PRJ | ss3854854084 | Apr 25, 2020 (154) |
| 114 | KRGDB | ss3900603215 | Apr 25, 2020 (154) |
| 115 | EVA | ss3984448047 | Apr 26, 2021 (155) |
| 116 | EVA | ss3984499945 | Apr 26, 2021 (155) |
| 117 | EVA | ss3984961494 | Apr 26, 2021 (155) |
| 118 | EVA | ss3986021504 | Apr 26, 2021 (155) |
| 119 | EVA | ss3986220561 | Apr 26, 2021 (155) |
| 120 | EVA | ss4017055752 | Apr 26, 2021 (155) |
| 121 | TOPMED | ss4548833440 | Apr 26, 2021 (155) |
| 122 | TOMMO_GENOMICS | ss5157056116 | Apr 26, 2021 (155) |
| 123 | EVA | ss5236979580 | Apr 26, 2021 (155) |
| 124 | EVA | ss5237314359 | Apr 26, 2021 (155) |
| 125 | 1000G_HIGH_COVERAGE | ss5252463057 | Oct 13, 2022 (156) |
| 126 | TRAN_CS_UWATERLOO | ss5314405466 | Oct 13, 2022 (156) |
| 127 | EVA | ss5314817566 | Oct 13, 2022 (156) |
| 128 | EVA | ss5336823414 | Oct 13, 2022 (156) |
| 129 | HUGCELL_USP | ss5452030969 | Oct 13, 2022 (156) |
| 130 | EVA | ss5512473838 | Oct 13, 2022 (156) |
| 131 | 1000G_HIGH_COVERAGE | ss5530019288 | Oct 13, 2022 (156) |
| 132 | SANFORD_IMAGENETICS | ss5624475466 | Oct 13, 2022 (156) |
| 133 | SANFORD_IMAGENETICS | ss5631198242 | Oct 13, 2022 (156) |
| 134 | TOMMO_GENOMICS | ss5688107888 | Oct 13, 2022 (156) |
| 135 | EVA | ss5799401937 | Oct 13, 2022 (156) |
| 136 | YY_MCH | ss5803328109 | Oct 13, 2022 (156) |
| 137 | EVA | ss5821760184 | Oct 13, 2022 (156) |
| 138 | EVA | ss5847907901 | Oct 13, 2022 (156) |
| 139 | EVA | ss5848538730 | Oct 13, 2022 (156) |
| 140 | EVA | ss5935201208 | Oct 13, 2022 (156) |
| 141 | EVA | ss5935625710 | Oct 13, 2022 (156) |
| 142 | EVA | ss5957463888 | Oct 13, 2022 (156) |
| 143 | EVA | ss5979604198 | Oct 13, 2022 (156) |
| 144 | 1000Genomes | NC_000002.11 - 234669144 | Oct 11, 2018 (152) |
| 145 | 1000Genomes_30x | NC_000002.12 - 233760498 | Oct 13, 2022 (156) |
| 146 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 234669144 | Oct 11, 2018 (152) |
| 147 | Chileans | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 148 | Genetic variation in the Estonian population | NC_000002.11 - 234669144 | Oct 11, 2018 (152) |
| 149 | ExAC | NC_000002.11 - 234669144 | Oct 11, 2018 (152) |
| 150 | FINRISK | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 151 | gnomAD - Genomes | NC_000002.12 - 233760498 | Apr 26, 2021 (155) |
| 152 | gnomAD - Exomes | NC_000002.11 - 234669144 | Jul 13, 2019 (153) |
| 153 | HapMap | NC_000002.12 - 233760498 | Apr 25, 2020 (154) |
| 154 | KOREAN population from KRGDB | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 155 | Medical Genome Project healthy controls from Spanish population | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 156 | Northern Sweden | NC_000002.11 - 234669144 | Jul 13, 2019 (153) |
| 157 | The PAGE Study | NC_000002.12 - 233760498 | Jul 13, 2019 (153) |
| 158 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000002.11 - 234669144 | Apr 26, 2021 (155) |
| 159 | CNV burdens in cranial meningiomas | NC_000002.11 - 234669144 | Apr 26, 2021 (155) |
| 160 | MxGDAR/Encodat-PGx | NC_000002.11 - 234669144 | Apr 26, 2021 (155) |
| 161 | PharmGKB Aggregated | NC_000002.12 - 233760498 | Apr 25, 2020 (154) |
| 162 | SGDP_PRJ | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 163 | Siberian | NC_000002.11 - 234669144 | Apr 25, 2020 (154) |
| 164 | 8.3KJPN | NC_000002.11 - 234669144 | Apr 26, 2021 (155) |
| 165 | 14KJPN | NC_000002.12 - 233760498 | Oct 13, 2022 (156) |
| 166 | TopMed | NC_000002.12 - 233760498 | Apr 26, 2021 (155) |
| 167 | UK 10K study - Twins | NC_000002.11 - 234669144 | Oct 11, 2018 (152) |
| 168 | A Vietnamese Genetic Variation Database | NC_000002.11 - 234669144 | Jul 13, 2019 (153) |
| 169 | ALFA | NC_000002.12 - 233760498 | Apr 26, 2021 (155) |
| 170 | ClinVar | RCV000013071.39 | Oct 13, 2022 (156) |
| 171 | ClinVar | RCV000022810.25 | Oct 13, 2022 (156) |
| 172 | ClinVar | RCV000022811.3 | Oct 13, 2022 (156) |
| 173 | ClinVar | RCV000173139.10 | Oct 13, 2022 (156) |
| 174 | ClinVar | RCV000664403.3 | Oct 13, 2022 (156) |
| 175 | ClinVar | RCV000987059.2 | Oct 13, 2022 (156) |
| 176 | ClinVar | RCV001508487.9 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs34360183 | May 23, 2006 (127) |
| rs58105808 | Feb 26, 2009 (130) |
| rs58585123 | May 24, 2008 (130) |
| rs113525835 | Oct 26, 2010 (133) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss66049762, ss75953376, ss169611436, ss276944166, ss480898220, ss484037560, ss491802742, ss1712539936, ss3643289840 | NC_000002.10:234333882:G:A | NC_000002.12:233760497:G:A | (self) |
| 13257650, 7342921, 245940, 5194200, 6708953, 21285, 2500854, 7780609, 117875, 2765885, 187421, 49285, 1048, 6871064, 1798868, 15025423, 7342921, 1594076, ss239083135, ss342105632, ss480582779, ss480917088, ss481871527, ss485244105, ss489858455, ss491333412, ss537217137, ss649966239, ss778903236, ss779213264, ss780811926, ss781266970, ss783067998, ss783493831, ss784025899, ss832326076, ss832972255, ss834364508, ss834679121, ss974446272, ss1067446642, ss1070036235, ss1302134509, ss1584024824, ss1606057645, ss1649051678, ss1686799458, ss1711001336, ss1752345221, ss1752345222, ss1917761546, ss1946070033, ss1958518580, ss2094809167, ss2095111601, ss2149282514, ss2625108463, ss2633755415, ss2633755416, ss2633755417, ss2703935219, ss2710928949, ss2733431817, ss2746910143, ss2787712063, ss2985203951, ss2985825273, ss2991558430, ss3022083120, ss3625779653, ss3628314202, ss3628314203, ss3631714590, ss3631714591, ss3633238542, ss3633951937, ss3634818218, ss3634818219, ss3636508288, ss3637389325, ss3638325647, ss3640525517, ss3640525518, ss3644772737, ss3652535925, ss3652535926, ss3653971970, ss3659455952, ss3729481020, ss3744488888, ss3745118107, ss3745118108, ss3758234703, ss3772614482, ss3772614483, ss3823868927, ss3825622234, ss3854854084, ss3900603215, ss3984448047, ss3984499945, ss3984961494, ss3986021504, ss3986220561, ss4017055752, ss5157056116, ss5237314359, ss5314817566, ss5336823414, ss5512473838, ss5624475466, ss5631198242, ss5799401937, ss5821760184, ss5847907901, ss5848538730, ss5935625710, ss5957463888, ss5979604198 | NC_000002.11:234669143:G:A | NC_000002.12:233760497:G:A | (self) |
| RCV000013071.39, RCV000022810.25, RCV000022811.3, RCV000173139.10, RCV000664403.3, RCV000987059.2, RCV001508487.9, 17545223, 94461379, 2035237, 217770, 6980, 21944992, 352656319, 12916233318, ss244317396, ss537712803, ss2240160686, ss3706266239, ss3725884825, ss3770996301, ss3802597187, ss4548833440, ss5236979580, ss5252463057, ss5314405466, ss5452030969, ss5530019288, ss5688107888, ss5803328109, ss5935201208 | NC_000002.12:233760497:G:A | NC_000002.12:233760497:G:A | (self) |
| ss5602103, ss50393216, ss65832337, ss68846590, ss69367663, ss69369244, ss74871467, ss81999514, ss84169589, ss105439990, ss154283843, ss154868076, ss159460751, ss159704053, ss160664235, ss173693216, ss244298922 | NT_005120.16:615402:G:A | NC_000002.12:233760497:G:A | (self) |
| ss5935625710 | NC_000002.11:234669143:G:C | NC_000002.12:233760497:G:C |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
90
citations for rs4148323
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9784835 | Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. | Akaba K et al. | 1998 | Biochemistry and molecular biology international |
| 9929972 | Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. | Akaba K et al. | 1999 | Journal of human genetics |
| 10412811 | A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. | Maruo Y et al. | 1999 | European journal of pediatrics |
| 10472535 | Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. | Kimura T et al. | 1999 | Journal of inherited metabolic disease |
| 11061796 | Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. | Maruo Y et al. | 2000 | Pediatrics |
| 11156391 | Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. | Ando Y et al. | 2000 | Cancer research |
| 12181437 | Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). | Gagné JF et al. | 2002 | Molecular pharmacology |
| 15304120 | Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. | Takeuchi K et al. | 2004 | Journal of gastroenterology and hepatology |
| 16636344 | Comprehensive analysis of UGT1A polymorphisms predictive for pharmacokinetics and treatment outcome in patients with non-small-cell lung cancer treated with irinotecan and cisplatin. | Han JY et al. | 2006 | Journal of clinical oncology |
| 17424838 | [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning]. | Sun P et al. | 2007 | Wei sheng yan jiu = Journal of hygiene research |
| 17627617 | Role of UGT1A1*6, UGT1A1*28 and ABCG2 c.421C>A polymorphisms in irinotecan-induced neutropenia in Asian cancer patients. | Jada SR et al. | 2007 | Cancer science |
| 17850628 | Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults. | Teng HC et al. | 2007 | Clinical genetics |
| 18004206 | Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. | Udomuksorn W et al. | 2007 | Pharmacogenetics and genomics |
| 18221820 | Integrated pharmacogenetic prediction of irinotecan pharmacokinetics and toxicity in patients with advanced non-small cell lung cancer. | Han JY et al. | 2009 | Lung cancer (Amsterdam, Netherlands) |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 19238116 | Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population. | Lin R et al. | 2009 | Pharmacogenetics and genomics |
| 19243019 | Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. | Lin R et al. | 2009 | Human mutation |
| 19267064 | [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer]. | Ji F et al. | 2009 | Wei sheng yan jiu = Journal of hygiene research |
| 19299905 | Clinical significance of UDP-glucuronosyltransferase 1A1*6 for toxicities of combination chemotherapy with irinotecan and cisplatin in gynecologic cancers: a prospective multi-institutional study. | Takano M et al. | 2009 | Oncology |
| 19343046 | Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. | Saito A et al. | 2009 | Journal of human genetics |
| 19390945 | UGT1A1*6 polymorphism is most predictive of severe neutropenia induced by irinotecan in Japanese cancer patients. | Onoue M et al. | 2009 | International journal of clinical oncology |
| 19482841 | Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis. | Zhai R et al. | 2009 | Thorax |
| 19572200 | Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes. | Di YM et al. | 2009 | The AAPS journal |
| 20389299 | Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. | Xu CF et al. | 2010 | British journal of cancer |
| 20602618 | Irinotecan pharmacogenomics. | Marsh S et al. | 2010 | Pharmacogenomics |
| 20639394 | Genome-wide association of serum bilirubin levels in Korean population. | Kang TW et al. | 2010 | Human molecular genetics |
| 20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
| 21072184 | Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. | Ni W et al. | 2010 | PloS one |
| 21513526 | UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach. | Hanchard NA et al. | 2011 | BMC medical genetics |
| 21712189 | Analysis of pharmacogenetic traits in two distinct South African populations. | Ikediobi O et al. | 2011 | Human genomics |
| 22085899 | UGT1A1 is a major locus influencing bilirubin levels in African Americans. | Chen G et al. | 2012 | European journal of human genetics |
| 22514612 | Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population. | Yang J et al. | 2012 | PloS one |
| 22866151 | Prevalence of topoisomerase I genetic mutations and UGT1A1 polymorphisms associated with irinotecan in individuals of Asian descent. | Fukui T et al. | 2011 | Oncology letters |
| 22888291 | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han. | Zhang X et al. | 2012 | Genetics and molecular biology |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23014115 | Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. | Sato H et al. | 2013 | Journal of human genetics |
| 23371916 | A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. | Dai X et al. | 2013 | Genetic epidemiology |
| 24308720 | The association of UGT1A1*6 and UGT1A1*28 with irinotecan-induced neutropenia in Asians: a meta-analysis. | Chen YJ et al. | 2014 | Biomarkers |
| 24339312 | Comprehensive variant screening of the UGT gene family. | Kim JY et al. | 2014 | Yonsei medical journal |
| 24448639 | UGT1A1*6 polymorphisms are correlated with irinotecan-induced toxicity: a system review and meta-analysis in Asians. | Cheng L et al. | 2014 | Cancer chemotherapy and pharmacology |
| 24519753 | Associations between UGT1A1*6 or UGT1A1*6/*28 polymorphisms and irinotecan-induced neutropenia in Asian cancer patients. | Han FF et al. | 2014 | Cancer chemotherapy and pharmacology |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25110414 | Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M et al. | 2014 | World journal of gastroenterology |
| 25171434 | UGT1A1*28 is associated with greater decrease in serum K⁺ levels following oral intake of procaterol. | Yokoe N et al. | 2015 | The Journal of asthma |
| 25175642 | A novel system for predicting the toxicity of irinotecan based on statistical pattern recognition with UGT1A genotypes. | Tsunedomi R et al. | 2014 | International journal of oncology |
| 25262300 | Quantitative trait analysis of polymorphisms in two bilirubin metabolism enzymes to physiologic bilirubin levels in Chinese newborns. | Zhou Y et al. | 2014 | The Journal of pediatrics |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25285015 | Clinical significance of UGT1A1 gene polymorphisms on irinotecan-based regimens as the treatment in metastatic colorectal cancer. | Li M et al. | 2014 | OncoTargets and therapy |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 26039129 | Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article. | Oussalah A et al. | 2015 | Medicine |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26146841 | Multiple Genetic Modifiers of Bilirubin Metabolism Involvement in Significant Neonatal Hyperbilirubinemia in Patients of Chinese Descent. | Yang H et al. | 2015 | PloS one |
| 26223945 | Influence of UDP-Glucuronosyltransferase Polymorphisms on Stable Warfarin Doses in Patients with Mechanical Cardiac Valves. | An SH et al. | 2015 | Cardiovascular therapeutics |
| 26229432 | Relationship between UGT1A1*6/*28 polymorphisms and severe toxicities in Chinese patients with pancreatic or biliary tract cancer treated with irinotecan-containing regimens. | Yang C et al. | 2015 | Drug design, development and therapy |
| 26413716 | A GWAS Study on Liver Function Test Using eMERGE Network Participants. | Namjou B et al. | 2015 | PloS one |
| 26417955 | Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. | Gammal RS et al. | 2016 | Clinical pharmacology and therapeutics |
| 26444257 | Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics. | Chan SL et al. | 2016 | Pharmacogenetics and genomics |
| 26716871 | Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. | Gupta N et al. | 2015 | PloS one |
| 26751466 | Association between UGT1A1 Polymorphism and Risk of Laryngeal Squamous Cell Carcinoma. | Huangfu H et al. | 2016 | International journal of environmental research and public health |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26830078 | Correlation of UGT1A1(*)28 and (*)6 polymorphisms with irinotecan-induced neutropenia in Thai colorectal cancer patients. | Atasilp C et al. | 2016 | Drug metabolism and pharmacokinetics |
| 26862009 | Impact of UGT1A1 genotype upon toxicities of combination with low-dose irinotecan plus platinum. | Takano M et al. | 2016 | Asia-Pacific journal of clinical oncology |
| 27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27296832 | ABCB1 polymorphism is associated with atorvastatin-induced liver injury in Japanese population. | Fukunaga K et al. | 2016 | BMC genetics |
| 27618021 | Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use. | Mlakar V et al. | 2016 | International journal of molecular sciences |
| 28131654 | Effects of UDP-glucuronosyltransferase (UGT) polymorphisms on the pharmacokinetics of febuxostat in healthy Chinese volunteers. | Lin M et al. | 2017 | Drug metabolism and pharmacokinetics |
| 28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
| 28321040 | Whole exome sequencing detects variants of genes that mediate response to anticancer drugs. | Ohnami S et al. | 2017 | The Journal of toxicological sciences |
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| 29094205 | Association between alanine aminotransferase elevation and UGT1A1*6 polymorphisms in daclatasvir and asunaprevir combination therapy for chronic hepatitis C. | Maekawa S et al. | 2018 | Journal of gastroenterology |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
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| 29755572 | Introducing Potential Key Proteins and Pathways in Human Laryngeal Cancer: A System Biology Approach. | Peyvandi H et al. | 2018 | Iranian journal of pharmaceutical research |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30298137 | Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study. | Zhou J et al. | 2018 | BioMed research international |
| 30563996 | Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population. | Bale G et al. | 2018 | Journal of clinical and experimental hepatology |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.