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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.

rs2515644

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:133539575 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.368102 (51485/139866, GnomAD)
A=0.240131 (33225/138362, ALFA)
A=0.45247 (12786/28258, 14KJPN) (+ 18 more)
A=0.45263 (7586/16760, 8.3KJPN)
A=0.4666 (2988/6404, 1000G_30x)
A=0.4647 (2327/5008, 1000G)
A=0.1893 (848/4480, Estonian)
A=0.1985 (765/3854, ALSPAC)
A=0.2001 (742/3708, TWINSUK)
A=0.4119 (1207/2930, KOREAN)
C=0.4989 (944/1892, HapMap)
A=0.3968 (727/1832, Korea1K)
A=0.185 (185/998, GoNL)
A=0.413 (323/782, PRJEB37584)
A=0.178 (107/600, NorthernSweden)
A=0.215 (98/456, SGDP_PRJ)
A=0.366 (79/216, Qatari)
A=0.421 (90/214, Vietnamese)
A=0.19 (10/54, Ancient Sardinia)
A=0.19 (10/52, Siberian)
A=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP2E1 : 500B Downstream Variant
Publications
0 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 138362 A=0.240131 C=0.759869
European Sub 118676 A=0.207557 C=0.792443
African Sub 6468 A=0.7072 C=0.2928
African Others Sub 232 A=0.776 C=0.224
African American Sub 6236 A=0.7046 C=0.2954
Asian Sub 616 A=0.429 C=0.571
East Asian Sub 486 A=0.418 C=0.582
Other Asian Sub 130 A=0.469 C=0.531
Latin American 1 Sub 746 A=0.390 C=0.610
Latin American 2 Sub 6302 A=0.3018 C=0.6982
South Asian Sub 180 A=0.372 C=0.628
Other Sub 5374 A=0.2782 C=0.7218


Help

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
gnomAD - Genomes Global Study-wide 139866 A=0.368102 C=0.631898
gnomAD - Genomes European Sub 75840 A=0.19752 C=0.80248
gnomAD - Genomes African Sub 41794 A=0.69756 C=0.30244
gnomAD - Genomes American Sub 13636 A=0.31652 C=0.68348
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2681 C=0.7319
gnomAD - Genomes East Asian Sub 3120 A=0.4288 C=0.5712
gnomAD - Genomes Other Sub 2152 A=0.3745 C=0.6255
Allele Frequency Aggregator Total Global 138362 A=0.240131 C=0.759869
Allele Frequency Aggregator European Sub 118676 A=0.207557 C=0.792443
Allele Frequency Aggregator African Sub 6468 A=0.7072 C=0.2928
Allele Frequency Aggregator Latin American 2 Sub 6302 A=0.3018 C=0.6982
Allele Frequency Aggregator Other Sub 5374 A=0.2782 C=0.7218
Allele Frequency Aggregator Latin American 1 Sub 746 A=0.390 C=0.610
Allele Frequency Aggregator Asian Sub 616 A=0.429 C=0.571
Allele Frequency Aggregator South Asian Sub 180 A=0.372 C=0.628
14KJPN JAPANESE Study-wide 28258 A=0.45247 C=0.54753
8.3KJPN JAPANESE Study-wide 16760 A=0.45263 C=0.54737
1000Genomes_30x Global Study-wide 6404 A=0.4666 C=0.5334
1000Genomes_30x African Sub 1786 A=0.7587 C=0.2413
1000Genomes_30x Europe Sub 1266 A=0.2212 C=0.7788
1000Genomes_30x South Asian Sub 1202 A=0.3802 C=0.6198
1000Genomes_30x East Asian Sub 1170 A=0.4752 C=0.5248
1000Genomes_30x American Sub 980 A=0.347 C=0.653
1000Genomes Global Study-wide 5008 A=0.4647 C=0.5353
1000Genomes African Sub 1322 A=0.7602 C=0.2398
1000Genomes East Asian Sub 1008 A=0.4712 C=0.5288
1000Genomes Europe Sub 1006 A=0.2316 C=0.7684
1000Genomes South Asian Sub 978 A=0.378 C=0.622
1000Genomes American Sub 694 A=0.352 C=0.648
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1893 C=0.8107
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1985 C=0.8015
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2001 C=0.7999
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4119 C=0.5881, G=0.0000
HapMap Global Study-wide 1892 A=0.5011 C=0.4989
HapMap American Sub 770 A=0.371 C=0.629
HapMap African Sub 692 A=0.724 C=0.276
HapMap Asian Sub 254 A=0.449 C=0.551
HapMap Europe Sub 176 A=0.267 C=0.733
Korean Genome Project KOREAN Study-wide 1832 A=0.3968 C=0.6032
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.185 C=0.815
CNV burdens in cranial meningiomas Global Study-wide 782 A=0.413 C=0.587
CNV burdens in cranial meningiomas CRM Sub 782 A=0.413 C=0.587
Northern Sweden ACPOP Study-wide 600 A=0.178 C=0.822
SGDP_PRJ Global Study-wide 456 A=0.215 C=0.785
Qatari Global Study-wide 216 A=0.366 C=0.634
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.421 C=0.579
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 A=0.19 C=0.81
Siberian Global Study-wide 52 A=0.19 C=0.81
The Danish reference pan genome Danish Study-wide 40 A=0.20 C=0.80
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 10 NC_000010.11:g.133539575A>C
GRCh38.p14 chr 10 NC_000010.11:g.133539575A>G
GRCh37.p13 chr 10 NC_000010.10:g.135353079A>C
GRCh37.p13 chr 10 NC_000010.10:g.135353079A>G
CYP2E1 RefSeqGene NG_008383.1:g.17213A>C
CYP2E1 RefSeqGene NG_008383.1:g.17213A>G
Gene: CYP2E1, cytochrome P450 family 2 subfamily E member 1 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
CYP2E1 transcript NM_000773.4:c. N/A Downstream Transcript 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.

Not Reported in ClinVar
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 A= C G
GRCh38.p14 chr 10 NC_000010.11:g.133539575= NC_000010.11:g.133539575A>C NC_000010.11:g.133539575A>G
GRCh37.p13 chr 10 NC_000010.10:g.135353079= NC_000010.10:g.135353079A>C NC_000010.10:g.135353079A>G
CYP2E1 RefSeqGene NG_008383.1:g.17213= NG_008383.1:g.17213A>C NG_008383.1:g.17213A>G
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#.

109 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3526079 Sep 28, 2001 (100)
2 SC_SNP ss12972145 Dec 05, 2003 (119)
3 SC_SNP ss15878853 Feb 27, 2004 (120)
4 PERLEGEN ss23945690 Sep 20, 2004 (123)
5 ABI ss39720562 Mar 14, 2006 (126)
6 ILLUMINA ss75268752 Dec 07, 2007 (129)
7 BCMHGSC_JDW ss88421893 Mar 23, 2008 (129)
8 HUMANGENOME_JCVI ss97699232 Feb 06, 2009 (130)
9 BGI ss102929682 Dec 01, 2009 (131)
10 1000GENOMES ss109896498 Jan 24, 2009 (130)
11 1000GENOMES ss114071401 Jan 25, 2009 (130)
12 KRIBB_YJKIM ss119437695 Dec 01, 2009 (131)
13 ENSEMBL ss131863908 Dec 01, 2009 (131)
14 ENSEMBL ss132214377 Dec 01, 2009 (131)
15 GMI ss155789650 Dec 01, 2009 (131)
16 ILLUMINA ss160554893 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168823467 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss171461168 Jul 04, 2010 (132)
19 ILLUMINA ss173377767 Jul 04, 2010 (132)
20 BUSHMAN ss202249414 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss207010599 Jul 04, 2010 (132)
22 1000GENOMES ss225041854 Jul 14, 2010 (132)
23 1000GENOMES ss235407924 Jul 15, 2010 (132)
24 1000GENOMES ss242070361 Jul 15, 2010 (132)
25 BL ss254753273 May 09, 2011 (134)
26 GMI ss280844159 May 04, 2012 (137)
27 GMI ss286296588 Apr 25, 2013 (138)
28 PJP ss290971459 May 09, 2011 (134)
29 ILLUMINA ss480592321 May 04, 2012 (137)
30 ILLUMINA ss480606674 May 04, 2012 (137)
31 ILLUMINA ss481433840 Sep 08, 2015 (146)
32 ILLUMINA ss485091434 May 04, 2012 (137)
33 ILLUMINA ss537099596 Sep 08, 2015 (146)
34 TISHKOFF ss562325038 Apr 25, 2013 (138)
35 SSMP ss657634323 Apr 25, 2013 (138)
36 ILLUMINA ss782992013 Sep 08, 2015 (146)
37 ILLUMINA ss783952764 Sep 08, 2015 (146)
38 ILLUMINA ss832248846 Sep 08, 2015 (146)
39 ILLUMINA ss834332453 Sep 08, 2015 (146)
40 EVA-GONL ss988110339 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1077435035 Aug 21, 2014 (142)
42 1000GENOMES ss1339759699 Aug 21, 2014 (142)
43 DDI ss1426501781 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1575464258 Apr 01, 2015 (144)
45 EVA_DECODE ss1597789315 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1625813212 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1668807245 Apr 01, 2015 (144)
48 EVA_SVP ss1713226220 Apr 01, 2015 (144)
49 ILLUMINA ss1751957755 Sep 08, 2015 (146)
50 HAMMER_LAB ss1806651047 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1931468983 Feb 12, 2016 (147)
52 GENOMED ss1967269020 Jul 19, 2016 (147)
53 JJLAB ss2026475130 Sep 14, 2016 (149)
54 USC_VALOUEV ss2154758335 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2179511350 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2627706886 Nov 08, 2017 (151)
57 ILLUMINA ss2632788447 Nov 08, 2017 (151)
58 GRF ss2699023406 Nov 08, 2017 (151)
59 GNOMAD ss2895307041 Nov 08, 2017 (151)
60 SWEGEN ss3007433723 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3027030023 Nov 08, 2017 (151)
62 CSHL ss3349401434 Nov 08, 2017 (151)
63 ILLUMINA ss3626577525 Oct 12, 2018 (152)
64 ILLUMINA ss3630809050 Oct 12, 2018 (152)
65 ILLUMINA ss3632971924 Oct 12, 2018 (152)
66 ILLUMINA ss3633670254 Oct 12, 2018 (152)
67 ILLUMINA ss3634433612 Oct 12, 2018 (152)
68 ILLUMINA ss3635362237 Oct 12, 2018 (152)
69 ILLUMINA ss3636118878 Oct 12, 2018 (152)
70 ILLUMINA ss3637113012 Oct 12, 2018 (152)
71 ILLUMINA ss3637884880 Oct 12, 2018 (152)
72 ILLUMINA ss3640140953 Oct 12, 2018 (152)
73 ILLUMINA ss3642885247 Oct 12, 2018 (152)
74 URBANLAB ss3649508374 Oct 12, 2018 (152)
75 EGCUT_WGS ss3674851390 Jul 13, 2019 (153)
76 EVA_DECODE ss3691036852 Jul 13, 2019 (153)
77 ACPOP ss3737836810 Jul 13, 2019 (153)
78 ILLUMINA ss3744734553 Jul 13, 2019 (153)
79 EVA ss3748830994 Jul 13, 2019 (153)
80 ILLUMINA ss3772234753 Jul 13, 2019 (153)
81 PACBIO ss3786836962 Jul 13, 2019 (153)
82 PACBIO ss3791993406 Jul 13, 2019 (153)
83 PACBIO ss3796875638 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3814180863 Jul 13, 2019 (153)
85 EVA ss3832427078 Apr 26, 2020 (154)
86 EVA ss3839755865 Apr 26, 2020 (154)
87 EVA ss3845231594 Apr 26, 2020 (154)
88 SGDP_PRJ ss3875434419 Apr 26, 2020 (154)
89 KRGDB ss3923638195 Apr 26, 2020 (154)
90 KOGIC ss3969029970 Apr 26, 2020 (154)
91 EVA ss3984644071 Apr 26, 2021 (155)
92 EVA ss3985512563 Apr 26, 2021 (155)
93 EVA ss4017518068 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5200261772 Apr 26, 2021 (155)
95 1000G_HIGH_COVERAGE ss5286084050 Oct 16, 2022 (156)
96 EVA ss5315519009 Oct 16, 2022 (156)
97 EVA ss5397172640 Oct 16, 2022 (156)
98 HUGCELL_USP ss5481440895 Oct 16, 2022 (156)
99 EVA ss5510223572 Oct 16, 2022 (156)
100 1000G_HIGH_COVERAGE ss5581057837 Oct 16, 2022 (156)
101 SANFORD_IMAGENETICS ss5650447505 Oct 16, 2022 (156)
102 TOMMO_GENOMICS ss5746885209 Oct 16, 2022 (156)
103 EVA ss5799831349 Oct 16, 2022 (156)
104 YY_MCH ss5812043223 Oct 16, 2022 (156)
105 EVA ss5825207710 Oct 16, 2022 (156)
106 EVA ss5849820354 Oct 16, 2022 (156)
107 EVA ss5881242699 Oct 16, 2022 (156)
108 EVA ss5941761363 Oct 16, 2022 (156)
109 EVA ss5980651531 Oct 16, 2022 (156)
110 1000Genomes NC_000010.10 - 135353079 Oct 12, 2018 (152)
111 1000Genomes_30x NC_000010.11 - 133539575 Oct 16, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 135353079 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000010.10 - 135353079 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000010.10 - 135353079 Apr 26, 2020 (154)
115 gnomAD - Genomes NC_000010.11 - 133539575 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000010.10 - 135353079 Apr 26, 2020 (154)
117 HapMap NC_000010.11 - 133539575 Apr 26, 2020 (154)
118 KOREAN population from KRGDB NC_000010.10 - 135353079 Apr 26, 2020 (154)
119 Korean Genome Project NC_000010.11 - 133539575 Apr 26, 2020 (154)
120 Northern Sweden NC_000010.10 - 135353079 Jul 13, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 135353079 Apr 26, 2021 (155)
122 CNV burdens in cranial meningiomas NC_000010.10 - 135353079 Apr 26, 2021 (155)
123 Qatari NC_000010.10 - 135353079 Apr 26, 2020 (154)
124 SGDP_PRJ NC_000010.10 - 135353079 Apr 26, 2020 (154)
125 Siberian NC_000010.10 - 135353079 Apr 26, 2020 (154)
126 8.3KJPN NC_000010.10 - 135353079 Apr 26, 2021 (155)
127 14KJPN NC_000010.11 - 133539575 Oct 16, 2022 (156)
128 UK 10K study - Twins NC_000010.10 - 135353079 Oct 12, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000010.10 - 135353079 Jul 13, 2019 (153)
130 ALFA NC_000010.11 - 133539575 Apr 26, 2021 (155)
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)
rs17012150 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss88421893, ss109896498, ss114071401, ss168823467, ss171461168, ss202249414, ss207010599, ss254753273, ss280844159, ss286296588, ss290971459, ss480592321, ss1597789315, ss1713226220, ss3642885247 NC_000010.9:135203068:A:C NC_000010.11:133539574:A:C (self)
52230403, 29022221, 20589638, 2402105, 12935898, 30815589, 11121675, 738490, 193544, 13510913, 27451399, 7274689, 58231079, 29022221, 6441667, ss225041854, ss235407924, ss242070361, ss480606674, ss481433840, ss485091434, ss537099596, ss562325038, ss657634323, ss782992013, ss783952764, ss832248846, ss834332453, ss988110339, ss1077435035, ss1339759699, ss1426501781, ss1575464258, ss1625813212, ss1668807245, ss1751957755, ss1806651047, ss1931468983, ss1967269020, ss2026475130, ss2154758335, ss2627706886, ss2632788447, ss2699023406, ss2895307041, ss3007433723, ss3349401434, ss3626577525, ss3630809050, ss3632971924, ss3633670254, ss3634433612, ss3635362237, ss3636118878, ss3637113012, ss3637884880, ss3640140953, ss3674851390, ss3737836810, ss3744734553, ss3748830994, ss3772234753, ss3786836962, ss3791993406, ss3796875638, ss3832427078, ss3839755865, ss3875434419, ss3923638195, ss3984644071, ss3985512563, ss4017518068, ss5200261772, ss5315519009, ss5397172640, ss5510223572, ss5650447505, ss5799831349, ss5825207710, ss5941761363, ss5980651531 NC_000010.10:135353078:A:C NC_000010.11:133539574:A:C (self)
68583772, 368865446, 530800, 25407971, 80722313, 13538882217, ss2179511350, ss3027030023, ss3649508374, ss3691036852, ss3814180863, ss3845231594, ss3969029970, ss5286084050, ss5481440895, ss5581057837, ss5746885209, ss5812043223, ss5849820354, ss5881242699 NC_000010.11:133539574:A:C NC_000010.11:133539574:A:C (self)
ss3526079, ss23945690, ss39720562, ss75268752, ss97699232, ss102929682, ss119437695, ss131863908, ss132214377, ss155789650, ss160554893, ss173377767 NT_008818.16:6587009:A:C NC_000010.11:133539574:A:C (self)
ss12972145 NT_017795.15:508657:A:C NC_000010.11:133539574:A:C (self)
ss15878853 NT_017795.16:508657:A:C NC_000010.11:133539574:A:C (self)
30815589, ss3923638195 NC_000010.10:135353078:A:G NC_000010.11:133539574:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs2515644

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
Top 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.

Software version is: 2.0.1.post761+d5e8e07