"TSC-CSHL"[Handle] - SNP

Search results

Items: 1 to 20 of 3474751

<< First< Prev

Page of 173738

Next >Last >>

Select item 3011.

rs301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:19959423 (GRCh38)
8:19816934 (GRCh37)
Canonical SPDI:: NC_000008.11:19959422:T:C
Gene:: LPL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.24268/46860 (ALFA)
C=0.172061/101 (Vietnamese)
C=0.173469/136 (PRJEB37584)
C=0.193255/3239 (TOMMO)
C=0.205119/601 (KOREAN)
C=0.21/126 (NorthernSweden)
C=0.240741/52 (Qatari)
C=0.241543/457 (HapMap)
C=0.241614/58705 (GnomAD_exomes)
C=0.248208/19534 (PAGE_STUDY)
C=0.249554/1118 (Estonian)
C=0.25/10 (GENOME_DK)
C=0.254252/67298 (TOPMED)
C=0.255309/1279 (1000Genomes)
C=0.255814/22 (PRJEB36033)
C=0.256351/35882 (GnomAD)
C=0.256579/28139 (ExAC)
C=0.2603/139 (MGP)
C=0.261023/296 (Daghestan)
C=0.341073/4436 (GoESP)
T=0.416667/90 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000008.11:g.19959423T>C, NC_000008.10:g.19816934T>C, NG_008855.2:g.62707T>C

PubMed LitVar

Select item 5672.

rs567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:53683267 (GRCh38)
5:52979097 (GRCh37)
Canonical SPDI:: NC_000005.10:53683266:G:A
Gene:: NDUFS4 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.471051/128921 (ALFA)
A=0.288237/4831 (TOMMO)
A=0.293122/537 (Korea1K)
A=0.295337/228 (PRJEB37584)
A=0.295563/866 (KOREAN)
A=0.3/12 (GENOME_DK)
A=0.324074/70 (Vietnamese)
G=0.328571/115 (SGDP_PRJ)
A=0.332975/620 (HapMap)
A=0.365741/79 (Qatari)
A=0.376796/1887 (1000Genomes)
A=0.379037/29414 (PAGE_STUDY)
A=0.388333/233 (NorthernSweden)
G=0.404762/17 (Siberian)
A=0.414103/109609 (TOPMED)
A=0.419499/5456 (GoESP)
A=0.421213/58883 (GnomAD)
A=0.448487/53491 (ExAC)
A=0.455912/455 (GoNL)
A=0.456542/113385 (GnomAD_exomes)
A=0.479502/1848 (ALSPAC)
A=0.479687/2149 (Estonian)
A=0.487325/1807 (TWINSUK)
A=0.488764/261 (MGP)
HGVS:: NC_000005.10:g.53683267G>A, NC_000005.9:g.52979097G>A, NG_008200.1:g.127633G>A, NM_002495.4:c.*46G>A, NM_002495.3:c.*46G>A, NM_002495.2:c.*46G>A, NR_134473.2:n.770G>A, NR_134473.1:n.776G>A, NR_134475.2:n.722G>A, NR_134475.1:n.728G>A, NR_134474.2:n.687G>A, NR_134474.1:n.693G>A, NM_001318051.2:c.*137G>A, NM_001318051.1:c.*137G>A

PubMed LitVar

Select item 6753.

rs675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:116820959 (GRCh38)
11:116691675 (GRCh37)
Canonical SPDI:: NC_000011.10:116820958:T:A,NC_000011.10:116820958:T:C,NC_000011.10:116820958:T:G
Gene:: APOA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.168652/15091 (ALFA)
A=0.000546/1 (Korea1K)
A=0.003788/3 (PRJEB37584)
A=0.004886/3 (Vietnamese)
G=0.009615/1 (SGDP_PRJ)
A=0.1/4 (GENOME_DK)
A=0.101031/506 (1000Genomes)
A=0.103659/34 (HapMap)
A=0.108135/8510 (PAGE_STUDY)
A=0.146667/88 (NorthernSweden)
A=0.147887/42 (PharmGKB)
A=0.148026/45 (FINRISK)
A=0.153659/40672 (TOPMED)
A=0.16854/2189 (GoESP)
A=0.178571/800 (Estonian)
A=0.191011/102 (MGP)
A=0.202405/202 (GoNL)
A=0.212963/46 (Qatari)
A=0.4/4 (Siberian)
HGVS:: NC_000011.10:g.116820959T>A, NC_000011.10:g.116820959T>C, NC_000011.10:g.116820959T>G, NC_000011.9:g.116691675T>A, NC_000011.9:g.116691675T>C, NC_000011.9:g.116691675T>G, NG_012044.1:g.7337A>T, NG_012044.1:g.7337A>G, NG_012044.1:g.7337A>C, NM_000482.4:c.1099A>T, NM_000482.4:c.1099A>G, NM_000482.4:c.1099A>C, NM_000482.3:c.1099A>T, NM_000482.3:c.1099A>G, NM_000482.3:c.1099A>C, NP_000473.2:p.Thr367Ser, NP_000473.2:p.Thr367Ala, NP_000473.2:p.Thr367Pro

PubMed LitVar

Select item 6954.

rs695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:63918839 (GRCh38)
17:61996199 (GRCh37)
Canonical SPDI:: NC_000017.11:63918838:T:A,NC_000017.11:63918838:T:G
Gene:: GH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.04618/600 (ALFA)
A=0.03515/103 (KOREAN)
A=0.08198/411 (1000Genomes)
A=0.08796/19 (Qatari)
A=0.11432/522 (GoESP)
A=0.35366/29 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000017.11:g.63918839T>A, NC_000017.11:g.63918839T>G, NC_000017.10:g.61996199T>A, NC_000017.10:g.61996199T>G, NG_042788.1:g.1747T>A, NG_042788.1:g.1747T>G, NG_011676.1:g.5000A>T, NG_011676.1:g.5000A>C, NM_000515.5:c.-63A>T, NM_000515.5:c.-63A>C, NM_000515.4:c.-63A>T, NM_000515.4:c.-63A>C, NM_022559.4:c.-63A>T, NM_022559.4:c.-63A>C, NM_022559.3:c.-63A>T, NM_022559.3:c.-63A>C, NM_022560.4:c.-63A>T, NM_022560.4:c.-63A>C, NM_022560.3:c.-63A>T, NM_022560.3:c.-63A>C

PubMed LitVar

Select item 8465.

rs846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:81490231 (GRCh38)
3:81539382 (GRCh37)
Canonical SPDI:: NC_000003.12:81490230:C:A,NC_000003.12:81490230:C:T
Gene:: GBE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.381763/10400 (ALFA)
T=0.060185/13 (Vietnamese)
T=0.132765/389 (KOREAN)
T=0.179171/3003 (TOMMO)
T=0.237179/74 (HapMap)
T=0.306527/1535 (1000Genomes)
C=0.317518/87 (SGDP_PRJ)
T=0.325/13 (GENOME_DK)
T=0.351895/93143 (TOPMED)
T=0.358373/50170 (GnomAD)
T=0.407407/88 (Qatari)
T=0.423848/423 (GoNL)
T=0.43/258 (NorthernSweden)
T=0.432143/1936 (Estonian)
C=0.433333/13 (Siberian)
T=0.447327/1724 (ALSPAC)
T=0.453344/1681 (TWINSUK)
HGVS:: NC_000003.12:g.81490231C>A, NC_000003.12:g.81490231C>T, NC_000003.11:g.81539382C>A, NC_000003.11:g.81539382C>T, NG_011810.1:g.276570G>T, NG_011810.1:g.276570G>A, NM_000158.4:c.*176G>T, NM_000158.4:c.*176G>A, NM_000158.3:c.*176G>T, NM_000158.3:c.*176G>A

Select item 9036.

rs903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:41501085 (GRCh38)
17:39657337 (GRCh37)
Canonical SPDI:: NC_000017.11:41501084:C:A,NC_000017.11:41501084:C:G,NC_000017.11:41501084:C:T
Gene:: KRT13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.387585/56068 (ALFA)
C=0.192623/94 (SGDP_PRJ)
C=0.25907/457 (HapMap)
C=0.300926/65 (Qatari)
C=0.304348/14 (Siberian)
C=0.308245/1544 (1000Genomes)
C=0.313775/83053 (TOPMED)
C=0.318041/44541 (GnomAD)
C=0.367412/230 (Chileans)
C=0.393304/1762 (Estonian)
C=0.395901/1468 (TWINSUK)
C=0.401667/241 (NorthernSweden)
C=0.412299/1589 (ALSPAC)
A=0.420561/90 (Vietnamese)
C=0.440882/440 (GoNL)
C=0.45/18 (GENOME_DK)
C=0.458773/7689 (TOMMO)
C=0.477133/1398 (KOREAN)
C=0.485808/890 (Korea1K)
HGVS:: NC_000017.11:g.41501085C>A, NC_000017.11:g.41501085C>G, NC_000017.11:g.41501085C>T, NC_000017.10:g.39657337C>A, NC_000017.10:g.39657337C>G, NC_000017.10:g.39657337C>T, NG_008406.2:g.9527G>T, NG_008406.2:g.9527G>C, NG_008406.2:g.9527G>A, NG_008406.1:g.9529G>T, NG_008406.1:g.9529G>C, NG_008406.1:g.9529G>A, NM_002274.4:c.*259G>T, NM_002274.4:c.*259G>C, NM_002274.4:c.*259G>A, NM_002274.3:c.*259G>T, NM_002274.3:c.*259G>C, NM_002274.3:c.*259G>A, NM_153490.3:c.*171G>T, NM_153490.3:c.*171G>C, NM_153490.3:c.*171G>A, NM_153490.2:c.*171G>T, NM_153490.2:c.*171G>C, NM_153490.2:c.*171G>A

Select item 9107.

rs910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 9:12710035 (GRCh38)
9:12710035 (GRCh37)
Canonical SPDI:: NC_000009.12:12710034:A:C,NC_000009.12:12710034:A:G,NC_000009.12:12710034:A:T
Gene:: TYRP1 (Varview), LURAP1L-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.007871/23 (KOREAN)
C=0.027778/6 (Vietnamese)
C=0.031035/520 (TOMMO)
A=0.225/135 (NorthernSweden)
C=0.262804/1316 (1000Genomes)
A=0.271652/1217 (Estonian)
C=0.275186/519 (HapMap)
A=0.295591/295 (GoNL)
A=0.303128/1124 (TWINSUK)
C=0.314815/68 (Qatari)
A=0.322522/1243 (ALSPAC)
A=0.333333/14 (Siberian)
A=0.338983/80 (SGDP_PRJ)
A=0.35/14 (GENOME_DK)
C=0.455015/120438 (TOPMED)
C=0.473592/538 (Daghestan)
C=0.496056/69309 (GnomAD)
HGVS:: NC_000009.12:g.12710035A>C, NC_000009.12:g.12710035A>G, NC_000009.12:g.12710035A>T, NC_000009.11:g.12710035A>C, NC_000009.11:g.12710035A>G, NC_000009.11:g.12710035A>T, NG_011705.1:g.21650A>C, NG_011705.1:g.21650A>G, NG_011705.1:g.21650A>T, NM_000550.3:c.*853A>C, NM_000550.3:c.*853A>G, NM_000550.3:c.*853A>T, NM_000550.2:c.*853A>C, NM_000550.2:c.*853A>G, NM_000550.2:c.*853A>T

PubMed LitVar

Select item 10858.

rs1085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:102890612 (GRCh38)
1:103356168 (GRCh37)
Canonical SPDI:: NC_000001.11:102890611:A:C,NC_000001.11:102890611:A:T
Gene:: COL11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.270951/15965 (ALFA)
A=0.125/2 (PRJEB36033)
A=0.125/6 (Siberian)
A=0.192946/93 (SGDP_PRJ)
A=0.196629/105 (MGP)
A=0.22081/851 (ALSPAC)
A=0.225/135 (NorthernSweden)
A=0.225/9 (GENOME_DK)
A=0.228348/1023 (Estonian)
A=0.234088/868 (TWINSUK)
A=0.242485/242 (GoNL)
A=0.242504/275 (Daghestan)
A=0.24537/53 (Qatari)
A=0.280888/582 (HGDP_Stanford)
A=0.299127/548 (Korea1K)
A=0.299659/878 (KOREAN)
A=0.3/63 (Vietnamese)
A=0.328921/5513 (TOMMO)
A=0.352672/49262 (GnomAD)
A=0.356122/94262 (TOPMED)
A=0.377264/1889 (1000Genomes)
C=0.405367/287 (HapMap)
HGVS:: NC_000001.11:g.102890612A>C, NC_000001.11:g.102890612A>T, NC_000001.10:g.103356168A>C, NC_000001.10:g.103356168A>T, NG_008033.2:g.222885T>G, NG_008033.2:g.222885T>A

Select item 11079.

rs1107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:72948424 (GRCh38)
7:72418963 (GRCh37)
Canonical SPDI:: NC_000007.14:72948423:T:A,NC_000007.14:72948423:T:C
Gene:: POM121 (Varview), NSUN5P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.460944/22235 (ALFA)
C=0.022472/12 (MGP)
T=0.331754/140 (SGDP_PRJ)
T=0.419269/2100 (1000Genomes)
T=0.429582/113706 (TOPMED)
T=0.430133/59927 (GnomAD)
C=0.459061/841 (Korea1K)
T=0.459772/55625 (ExAC)
T=0.462097/114614 (GnomAD_exomes)
C=0.46988/7873 (TOMMO)
C=0.476792/1397 (KOREAN)
C=0.481481/104 (Qatari)
T=0.481667/289 (NorthernSweden)
T=0.482445/6266 (GoESP)
C=0.485972/485 (GoNL)
HGVS:: NC_000007.14:g.72948424T>A, NC_000007.14:g.72948424T>C, NW_003871064.1:g.477660T>A, NW_003871064.1:g.477660T>C, NC_000007.13:g.72418963T>A, NC_000007.13:g.72418963T>C, NM_001257190.3:c.2954T>A, NM_001257190.3:c.2954T>C, NM_001257190.2:c.2954T>A, NM_001257190.2:c.2954T>C, NR_033323.3:n.1636A>T, NR_033323.3:n.1636A>G, NM_032158.3:c.908A>T, NM_032158.3:c.908A>G, NM_032158.2:c.908A>T, NM_032158.2:c.908A>G, NM_148936.2:c.836A>T, NM_148936.2:c.836A>G, NM_014833.1:c.2954C>T, NM_014833.1:c.2954C>A, NM_148980.1:c.*310A>T, NM_148980.1:c.*310A>G, NM_149379.1:c.*240A>T, NM_149379.1:c.*240A>G, NM_032158.1:c.908G>A, NM_032158.1:c.908G>T, NM_148936.1:c.836A>T, NM_148936.1:c.836A>G, NM_001039487.1:c.908A>T, NM_001039487.1:c.908A>G, NP_001244119.1:p.Leu985His, NP_001244119.1:p.Leu985Pro

PubMed LitVar

Select item 120510.

rs1205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159712443 (GRCh38)
1:159682233 (GRCh37)
Canonical SPDI:: NC_000001.11:159712442:C:T
Gene:: CRP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.327486/57758 (ALFA)
T=0.2463/233 (PharmGKB)
T=0.276014/313 (Daghestan)
T=0.304617/80629 (TOPMED)
T=0.304821/42667 (GnomAD)
C=0.317738/5325 (TOMMO)
T=0.325/13 (GENOME_DK)
T=0.326653/326 (GoNL)
T=0.326667/196 (NorthernSweden)
T=0.328224/621 (HapMap)
T=0.32823/1265 (ALSPAC)
T=0.330906/1227 (TWINSUK)
T=0.333333/72 (Qatari)
T=0.334278/26307 (PAGE_STUDY)
T=0.334791/1677 (1000Genomes)
C=0.366667/121 (SGDP_PRJ)
C=0.368421/14 (Siberian)
C=0.373379/1094 (KOREAN)
T=0.38683/1733 (Estonian)
C=0.454082/356 (PRJEB37584)
T=0.47619/100 (Vietnamese)
HGVS:: NC_000001.11:g.159712443C>T, NC_000001.10:g.159682233C>T, NG_013007.1:g.7147G>A, NM_000567.3:c.*1082G>A, NM_000567.2:c.*1082G>A, NM_001329057.2:c.*374G>A, NM_001329057.1:c.*374G>A, NM_001329058.2:c.*148G>A, NM_001329058.1:c.*148G>A, NM_001382703.1:c.*1082G>A

PubMed LitVar

Select item 120811.

rs1208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:18400806 (GRCh38)
8:18258316 (GRCh37)
Canonical SPDI:: NC_000008.11:18400805:G:A,NC_000008.11:18400805:G:C,NC_000008.11:18400805:G:T
Gene:: NAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.425006/102259 (ALFA)
G=0.02116/62 (KOREAN)
G=0.022926/42 (Korea1K)
G=0.027815/466 (TOMMO)
G=0.030303/24 (PRJEB37584)
G=0.074675/46 (Vietnamese)
G=0.200422/95 (SGDP_PRJ)
G=0.202857/71 (PharmGKB)
G=0.323417/674 (HGDP_Stanford)
G=0.325/13 (GENOME_DK)
G=0.331824/1662 (1000Genomes)
G=0.338812/639 (HapMap)
G=0.33942/26711 (PAGE_STUDY)
G=0.382796/45862 (ExAC)
G=0.386364/17 (Siberian)
G=0.392595/103916 (TOPMED)
G=0.419305/1616 (ALSPAC)
G=0.428263/1588 (TWINSUK)
G=0.4375/133 (FINRISK)
G=0.441884/441 (GoNL)
A=0.44382/237 (MGP)
A=0.444444/24 (PRJEB36033)
G=0.45/270 (NorthernSweden)
G=0.450446/2018 (Estonian)
A=0.486111/105 (Qatari)
HGVS:: NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.2:c.803G>A, XM_017012938.2:c.803G>C, XM_017012938.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile

PubMed LitVar

Select item 123012.

rs1230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:89738447 (GRCh38)
16:89804855 (GRCh37)
Canonical SPDI:: NC_000016.10:89738446:C:G,NC_000016.10:89738446:C:T
Gene:: FANCA (Varview), ZNF276 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.410049/33478 (ALFA)
C=0.018692/4 (Vietnamese)
C=0.020819/61 (KOREAN)
C=0.022926/42 (Korea1K)
C=0.026258/440 (TOMMO)
C=0.16886/77 (SGDP_PRJ)
T=0.190476/8 (PRJEB36033)
C=0.214286/9 (Siberian)
C=0.297985/562 (HapMap)
C=0.30356/1520 (1000Genomes)
T=0.361111/78 (Qatari)
C=0.377885/786 (HGDP_Stanford)
T=0.387776/387 (GoNL)
T=0.4/16 (GENOME_DK)
T=0.403217/1554 (ALSPAC)
T=0.418557/85836 (GENOGRAPHIC)
T=0.41942/1879 (Estonian)
T=0.423333/254 (NorthernSweden)
T=0.430151/1595 (TWINSUK)
C=0.44755/118462 (TOPMED)
HGVS:: NC_000016.10:g.89738447C>G, NC_000016.10:g.89738447C>T, NC_000016.9:g.89804855C>G, NC_000016.9:g.89804855C>T, NG_011706.1:g.83211G>C, NG_011706.1:g.83211G>A, NM_000135.4:c.*154G>C, NM_000135.4:c.*154G>A, NM_000135.3:c.*154G>C, NM_000135.3:c.*154G>A, NM_000135.2:c.*154G>C, NM_000135.2:c.*154G>A, NM_001286167.3:c.*251G>C, NM_001286167.3:c.*251G>A, NM_001286167.2:c.*251G>C, NM_001286167.2:c.*251G>A, NM_001286167.1:c.*251G>C, NM_001286167.1:c.*251G>A, NM_152287.4:c.*201C>G, NM_152287.4:c.*201C>T, NM_152287.3:c.*201C>G, NM_152287.3:c.*201C>T, XM_005256324.4:c.*201C>G, XM_005256324.4:c.*201C>T, XM_005256324.3:c.*201C>G, XM_005256324.3:c.*201C>T, XM_005256324.2:c.*201C>G, XM_005256324.2:c.*201C>T, XM_005256324.1:c.*201C>G, XM_005256324.1:c.*201C>T, NR_110122.2:n.2201C>G, NR_110122.2:n.2201C>T, NR_110122.1:n.2218C>G, NR_110122.1:n.2218C>T, NM_001113525.2:c.*201C>G, NM_001113525.2:c.*201C>T, NM_001113525.1:c.*201C>G, NM_001113525.1:c.*201C>T, NR_110129.2:n.2118C>G, NR_110129.2:n.2118C>T, NR_110129.1:n.2113C>G, NR_110129.1:n.2113C>T, NR_110126.2:n.2084C>G, NR_110126.2:n.2084C>T, NR_110126.1:n.2101C>G, NR_110126.1:n.2101C>T, NR_110128.2:n.2024C>G, NR_110128.2:n.2024C>T, NR_110128.1:n.2024C>G, NR_110128.1:n.2024C>T, XM_047434901.1:c.*201C>G, XM_047434901.1:c.*201C>T

Select item 127013.

rs1270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:156594106 (GRCh38)
1:156563898 (GRCh37)
Canonical SPDI:: NC_000001.11:156594105:T:A,NC_000001.11:156594105:T:C,NC_000001.11:156594105:T:G
Gene:: GPATCH4 (Varview), NAXE (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.054518/1670 (ALFA)
T=0./0 (GENOME_DK)
G=0./0 (KOREAN)
T=0.013889/3 (Vietnamese)
T=0.017271/289 (TOMMO)
T=0.017857/1 (Siberian)
T=0.019038/19 (GoNL)
T=0.02/12 (NorthernSweden)
T=0.030744/114 (TWINSUK)
T=0.032895/10 (FINRISK)
T=0.033991/131 (ALSPAC)
T=0.037723/169 (Estonian)
T=0.04207/10558 (GnomAD_exomes)
T=0.044862/5441 (ExAC)
T=0.048689/26 (MGP)
T=0.050725/28 (SGDP_PRJ)
T=0.065421/9173 (GnomAD)
T=0.066726/75 (Daghestan)
T=0.067502/17867 (TOPMED)
T=0.070352/915 (GoESP)
T=0.073548/368 (1000Genomes)
T=0.087963/19 (Qatari)
HGVS:: NC_000001.11:g.156594106T>A, NC_000001.11:g.156594106T>C, NC_000001.11:g.156594106T>G, NC_000001.10:g.156563898T>A, NC_000001.10:g.156563898T>C, NC_000001.10:g.156563898T>G, NG_052542.1:g.7341T>A, NG_052542.1:g.7341T>C, NG_052542.1:g.7341T>G, NM_144772.3:c.*22T>A, NM_144772.3:c.*22T>C, NM_144772.3:c.*22T>G, NM_144772.2:c.*22T>A, NM_144772.2:c.*22T>C, NM_144772.2:c.*22T>G, NW_025791758.1:g.152663T>A, NW_025791758.1:g.152663T>C, NW_025791758.1:g.152663T>G

Select item 127114.

rs1271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:156594200 (GRCh38)
1:156563992 (GRCh37)
Canonical SPDI:: NC_000001.11:156594199:C:A,NC_000001.11:156594199:C:G,NC_000001.11:156594199:C:T
Gene:: GPATCH4 (Varview), NAXE (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.048753/864 (ALFA)
C=0./0 (GENOME_DK)
T=0./0 (KOREAN)
C=0.014151/3 (Vietnamese)
C=0.017306/290 (TOMMO)
C=0.017857/1 (Siberian)
C=0.02/12 (NorthernSweden)
C=0.02004/20 (GoNL)
C=0.030744/114 (TWINSUK)
C=0.033991/131 (ALSPAC)
C=0.037946/170 (Estonian)
C=0.050725/28 (SGDP_PRJ)
C=0.065362/9164 (GnomAD)
C=0.067449/17853 (TOPMED)
C=0.073548/368 (1000Genomes)
C=0.087879/29 (HapMap)
C=0.087963/19 (Qatari)
G=0.32397/173 (MGP)
HGVS:: NC_000001.11:g.156594200C>A, NC_000001.11:g.156594200C>G, NC_000001.11:g.156594200C>T, NC_000001.10:g.156563992C>A, NC_000001.10:g.156563992C>G, NC_000001.10:g.156563992C>T, NG_052542.1:g.7435C>A, NG_052542.1:g.7435C>G, NG_052542.1:g.7435C>T, NM_144772.3:c.*116C>A, NM_144772.3:c.*116C>G, NM_144772.3:c.*116C>T, NM_144772.2:c.*116C>A, NM_144772.2:c.*116C>G, NM_144772.2:c.*116C>T, NW_025791758.1:g.152757C>A, NW_025791758.1:g.152757C>G, NW_025791758.1:g.152757C>T

Select item 138415.

rs1384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:69354054 (GRCh38)
12:69747834 (GRCh37)
Canonical SPDI:: NC_000012.12:69354053:C:G,NC_000012.12:69354053:C:T
Gene:: LYZ (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.479098/69588 (ALFA)
C=0.267857/105 (SGDP_PRJ)
C=0.296943/544 (Korea1K)
C=0.303413/889 (KOREAN)
C=0.303738/65 (Vietnamese)
C=0.321113/5382 (TOMMO)
C=0.347826/16 (Siberian)
T=0.375/15 (GENOME_DK)
T=0.396186/748 (HapMap)
T=0.400163/55978 (GnomAD)
T=0.406358/107559 (TOPMED)
C=0.455804/2042 (Estonian)
T=0.456667/274 (NorthernSweden)
T=0.458151/2294 (1000Genomes)
T=0.458333/99 (Qatari)
T=0.481964/481 (GoNL)
C=0.492988/1828 (TWINSUK)
T=0.496367/1913 (ALSPAC)
HGVS:: NC_000012.12:g.69354054C>G, NC_000012.12:g.69354054C>T, NC_000012.11:g.69747834C>G, NC_000012.11:g.69747834C>T, NG_008195.1:g.10701C>G, NG_008195.1:g.10701C>T, NM_000239.3:c.*835C>G, NM_000239.3:c.*835C>T, NM_000239.2:c.*835C>G, NM_000239.2:c.*835C>T

LitVar

Select item 139516.

rs1395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27201768 (GRCh38)
2:27424636 (GRCh37)
Canonical SPDI:: NC_000002.12:27201767:G:A,NC_000002.12:27201767:G:T
Gene:: SLC5A6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.322473/119588 (ALFA)
G=0.100644/1687 (TOMMO)
G=0.128074/375 (KOREAN)
G=0.135101/107 (PRJEB37584)
G=0.137009/251 (Korea1K)
G=0.17101/105 (Vietnamese)
G=0.2/8 (GENOME_DK)
G=0.242991/104 (SGDP_PRJ)
G=0.243243/18 (PRJEB36033)
G=0.267857/15 (Siberian)
G=0.276316/84 (FINRISK)
G=0.28452/1055 (TWINSUK)
G=0.296316/1142 (ALSPAC)
G=0.302902/1357 (Estonian)
G=0.312625/312 (GoNL)
G=0.340782/122 (PharmGKB)
G=0.368914/197 (MGP)
G=0.37/222 (NorthernSweden)
G=0.379141/95178 (GnomAD_exomes)
G=0.380716/46091 (ExAC)
A=0.440099/34634 (PAGE_STUDY)
G=0.452015/942 (HGDP_Stanford)
G=0.453425/63484 (GnomAD)
A=0.458333/99 (Qatari)
G=0.458634/5965 (GoESP)
G=0.474355/125557 (TOPMED)
G=0.480325/2405 (1000Genomes)
A=0.496285/935 (HapMap)
HGVS:: NC_000002.12:g.27201768G>A, NC_000002.12:g.27201768G>T, NC_000002.11:g.27424636G>A, NC_000002.11:g.27424636G>T, NM_021095.4:c.1442C>T, NM_021095.4:c.1442C>A, NM_021095.3:c.1442C>T, NM_021095.3:c.1442C>A, NM_021095.2:c.1442C>T, NM_021095.2:c.1442C>A, XM_006712128.3:c.1442C>T, XM_006712128.3:c.1442C>A, XM_006712128.2:c.1442C>T, XM_006712128.2:c.1442C>A, XM_006712128.1:c.1442C>T, XM_006712128.1:c.1442C>A, XR_001739024.3:n.1885C>T, XR_001739024.3:n.1885C>A, XR_001739024.2:n.1735C>T, XR_001739024.2:n.1735C>A, XR_001739024.1:n.1724C>T, XR_001739024.1:n.1724C>A, XM_006712129.2:c.1442C>T, XM_006712129.2:c.1442C>A, XM_006712129.1:c.1442C>T, XM_006712129.1:c.1442C>A, NR_028323.2:n.2250C>T, NR_028323.2:n.2250C>A, NR_028323.1:n.2289C>T, NR_028323.1:n.2289C>A, XM_006712130.2:c.1442C>T, XM_006712130.2:c.1442C>A, XM_006712130.1:c.1442C>T, XM_006712130.1:c.1442C>A, XM_024453207.2:c.1442C>T, XM_024453207.2:c.1442C>A, XM_024453207.1:c.1442C>T, XM_024453207.1:c.1442C>A, XM_024453206.2:c.1442C>T, XM_024453206.2:c.1442C>A, XM_024453206.1:c.1442C>T, XM_024453206.1:c.1442C>A, XR_002959356.2:n.1898C>T, XR_002959356.2:n.1898C>A, XR_002959356.1:n.1972C>T, XR_002959356.1:n.1972C>A, XR_001739023.2:n.1829C>T, XR_001739023.2:n.1829C>A, XR_001739023.1:n.1668C>T, XR_001739023.1:n.1668C>A, XR_002959358.2:n.1898C>T, XR_002959358.2:n.1898C>A, XR_002959358.1:n.1907C>T, XR_002959358.1:n.1907C>A, XR_001739022.2:n.1696C>T, XR_001739022.2:n.1696C>A, XR_001739022.1:n.1738C>T, XR_001739022.1:n.1738C>A, XR_002959357.2:n.1898C>T, XR_002959357.2:n.1898C>A, XR_002959357.1:n.1907C>T, XR_002959357.1:n.1907C>A, XM_047446243.1:c.1442C>T, XM_047446243.1:c.1442C>A, XM_047446246.1:c.1442C>T, XM_047446246.1:c.1442C>A, XM_047446245.1:c.1442C>T, XM_047446245.1:c.1442C>A, XM_047446244.1:c.1442C>T, XM_047446244.1:c.1442C>A, XR_007084322.1:n.1808C>T, XR_007084322.1:n.1808C>A, XM_047446247.1:c.815C>T, XM_047446247.1:c.815C>A, XM_047446248.1:c.773C>T, XM_047446248.1:c.773C>A, NP_066918.2:p.Ser481Phe, NP_066918.2:p.Ser481Tyr, XP_006712191.1:p.Ser481Phe, XP_006712191.1:p.Ser481Tyr, XP_006712192.1:p.Ser481Phe, XP_006712192.1:p.Ser481Tyr, XP_006712193.1:p.Ser481Phe, XP_006712193.1:p.Ser481Tyr, XP_024308975.1:p.Ser481Phe, XP_024308975.1:p.Ser481Tyr, XP_024308974.1:p.Ser481Phe, XP_024308974.1:p.Ser481Tyr, XP_047302199.1:p.Ser481Phe, XP_047302199.1:p.Ser481Tyr, XP_047302202.1:p.Ser481Phe, XP_047302202.1:p.Ser481Tyr, XP_047302201.1:p.Ser481Phe, XP_047302201.1:p.Ser481Tyr, XP_047302200.1:p.Ser481Phe, XP_047302200.1:p.Ser481Tyr, XP_047302203.1:p.Ser272Phe, XP_047302203.1:p.Ser272Tyr, XP_047302204.1:p.Ser258Phe, XP_047302204.1:p.Ser258Tyr

PubMed LitVar

Select item 144217.

rs1442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:136047300 (GRCh38)
5:135382989 (GRCh37)
Canonical SPDI:: NC_000005.10:136047299:G:A,NC_000005.10:136047299:G:C,NC_000005.10:136047299:G:T
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.437372/21810 (ALFA)
C=0.266533/20942 (PAGE_STUDY)
C=0.281818/93 (HapMap)
C=0.3/180 (Vietnamese)
G=0.315789/12 (Siberian)
C=0.316833/1587 (1000Genomes)
C=0.328704/71 (Qatari)
C=0.33952/622 (Korea1K)
C=0.343482/4321 (GoESP)
C=0.349118/92408 (TOPMED)
C=0.352254/5904 (TOMMO)
C=0.353242/1035 (KOREAN)
C=0.36069/50462 (GnomAD)
G=0.369565/119 (SGDP_PRJ)
C=0.426989/51512 (ExAC)
C=0.435257/108413 (GnomAD_exomes)
C=0.449438/240 (MGP)
C=0.466295/2089 (Estonian)
C=0.466788/1799 (ALSPAC)
C=0.476667/286 (NorthernSweden)
C=0.476807/1768 (TWINSUK)
C=0.482966/482 (GoNL)
G=0.493421/150 (FINRISK)
HGVS:: NC_000005.10:g.136047300G>A, NC_000005.10:g.136047300G>C, NC_000005.10:g.136047300G>T, NC_000005.9:g.135382989G>A, NC_000005.9:g.135382989G>C, NC_000005.9:g.135382989G>T, NG_012646.1:g.23406G>A, NG_012646.1:g.23406G>C, NG_012646.1:g.23406G>T, NM_000358.3:c.651G>A, NM_000358.3:c.651G>C, NM_000358.3:c.651G>T, NM_000358.2:c.651G>A, NM_000358.2:c.651G>C, NM_000358.2:c.651G>T

PubMed LitVar

Select item 147818.

rs1478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:113217489 (GRCh38)
2:113975066 (GRCh37)
Canonical SPDI:: NC_000002.12:113217488:T:A,NC_000002.12:113217488:T:G
Gene:: PAX8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.204457/30128 (ALFA)
G=0.062252/1043 (TOMMO)
G=0.081878/150 (Korea1K)
G=0.087269/255 (KOREAN)
G=0.111111/24 (Vietnamese)
G=0.143519/31 (Qatari)
G=0.146067/78 (MGP)
G=0.157244/178 (Daghestan)
G=0.192008/740 (ALSPAC)
G=0.213592/792 (TWINSUK)
G=0.226667/136 (NorthernSweden)
G=0.232465/232 (GoNL)
G=0.246721/1236 (1000Genomes)
G=0.25/10 (GENOME_DK)
T=0.25/3 (Siberian)
G=0.259598/1163 (Estonian)
G=0.263492/498 (HapMap)
G=0.269988/71463 (TOPMED)
G=0.280844/39253 (GnomAD)
T=0.409091/63 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113217489T>A, NC_000002.12:g.113217489T>G, NC_000002.11:g.113975066T>A, NC_000002.11:g.113975066T>G, NG_012384.1:g.66433A>T, NG_012384.1:g.66433A>C, NM_003466.4:c.*1044A>T, NM_003466.4:c.*1044A>C, NM_003466.3:c.*1044A>T, NM_003466.3:c.*1044A>C, NM_013952.4:c.*1121A>T, NM_013952.4:c.*1121A>C, NM_013952.3:c.*1121A>T, NM_013952.3:c.*1121A>C, NM_013953.4:c.*1121A>T, NM_013953.4:c.*1121A>C, NM_013953.3:c.*1121A>T, NM_013953.3:c.*1121A>C, NM_013992.4:c.*1121A>T, NM_013992.4:c.*1121A>C, NM_013992.3:c.*1121A>T, NM_013992.3:c.*1121A>C, NM_013951.3:c.*1044A>T, NM_013951.3:c.*1044A>C, NM_013951.2:c.*1044A>T, NM_013951.2:c.*1044A>C

PubMed LitVar

Select item 147919.

rs1479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:113217527 (GRCh38)
2:113975104 (GRCh37)
Canonical SPDI:: NC_000002.12:113217526:T:G
Gene:: PAX8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.231326/10858 (ALFA)
G=0.04215/706 (TOMMO)
G=0.070415/129 (Korea1K)
G=0.074949/219 (KOREAN)
G=0.108614/58 (MGP)
G=0.111111/24 (Vietnamese)
G=0.148148/32 (Qatari)
G=0.188116/725 (ALSPAC)
G=0.206041/764 (TWINSUK)
G=0.213333/128 (NorthernSweden)
G=0.231463/231 (GoNL)
G=0.25/10 (GENOME_DK)
G=0.253279/1268 (1000Genomes)
G=0.258705/1159 (Estonian)
G=0.279893/74085 (TOPMED)
G=0.29017/40669 (GnomAD)
T=0.3125/5 (Siberian)
T=0.39375/63 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113217527T>G, NC_000002.11:g.113975104T>G, NG_012384.1:g.66395A>C, NM_003466.4:c.*1006A>C, NM_003466.3:c.*1006A>C, NM_013952.4:c.*1083A>C, NM_013952.3:c.*1083A>C, NM_013953.4:c.*1083A>C, NM_013953.3:c.*1083A>C, NM_013992.4:c.*1083A>C, NM_013992.3:c.*1083A>C, NM_013951.3:c.*1006A>C, NM_013951.2:c.*1006A>C

LitVar

Select item 154520.

rs1545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:10405365 (GRCh38)
20:10386013 (GRCh37)
Canonical SPDI:: NC_000020.11:10405364:C:A,NC_000020.11:10405364:C:G
Gene:: MKKS (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.11694/39367 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.107214/107 (GoNL)
A=0.115156/427 (TWINSUK)
A=0.116295/521 (Estonian)
A=0.121667/73 (NorthernSweden)
A=0.124546/480 (ALSPAC)
A=0.12588/143 (Daghestan)
A=0.131086/70 (MGP)
A=0.13217/1719 (GoESP)
A=0.134868/41 (FINRISK)
A=0.140287/35257 (GnomAD_exomes)
A=0.141467/19824 (GnomAD)
A=0.143718/17414 (ExAC)
A=0.144539/38258 (TOPMED)
A=0.148148/32 (Qatari)
A=0.155556/14 (PRJEB36033)
A=0.160269/334 (HGDP_Stanford)
A=0.16895/13295 (PAGE_STUDY)
A=0.190662/955 (1000Genomes)
A=0.216489/407 (HapMap)
A=0.223891/656 (KOREAN)
A=0.225983/414 (Korea1K)
A=0.259148/4343 (TOMMO)
A=0.288744/177 (Vietnamese)
C=0.444444/8 (Siberian)
C=0.450617/73 (SGDP_PRJ)
HGVS:: NC_000020.11:g.10405365C>A, NC_000020.11:g.10405365C>G, NC_000020.10:g.10386013C>A, NC_000020.10:g.10386013C>G, NG_009109.2:g.33854G>T, NG_009109.2:g.33854G>C, NM_170784.3:c.1595G>T, NM_170784.3:c.1595G>C, NM_170784.2:c.1595G>T, NM_170784.2:c.1595G>C, NM_018848.3:c.1595G>T, NM_018848.3:c.1595G>C, NR_072977.2:n.956G>T, NR_072977.2:n.956G>C, NR_072977.1:n.973G>T, NR_072977.1:n.973G>C, NP_740754.1:p.Gly532Val, NP_740754.1:p.Gly532Ala, NP_061336.1:p.Gly532Val, NP_061336.1:p.Gly532Ala

PubMed LitVar

<< First< Prev

Page of 173738

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 3474751

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity