7[CHR] - SNP

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Select item 6621.

rs662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:95308134 (GRCh38)
7:94937446 (GRCh37)
Canonical SPDI:: NC_000007.14:95308133:T:A,NC_000007.14:95308133:T:C,NC_000007.14:95308133:T:G
Gene:: PON1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,risk-factor,association
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.315298/111601 (ALFA)
G=0./0 (KOREAN)
C=0.214286/6 (PRJEB36033)
C=0.247991/1111 (Estonian)
C=0.253333/152 (NorthernSweden)
T=0.2675/107 (SGDP_PRJ)
C=0.276316/84 (FINRISK)
C=0.278857/1034 (TWINSUK)
C=0.283567/283 (GoNL)
C=0.290348/1119 (ALSPAC)
T=0.294788/181 (Vietnamese)
C=0.3/12 (GENOME_DK)
C=0.301431/337 (Daghestan)
C=0.307116/164 (MGP)
T=0.333888/5595 (TOMMO)
T=0.347826/16 (Siberian)
C=0.377047/45735 (ExAC)
C=0.378433/95101 (GnomAD_exomes)
C=0.37963/82 (Qatari)
C=0.422151/59042 (GnomAD)
T=0.42789/807 (HapMap)
T=0.428751/33741 (PAGE_STUDY)
C=0.445619/117951 (TOPMED)
T=0.457214/2290 (1000Genomes)
C=0.491363/1024 (HGDP_Stanford)
T=0.491525/174 (PharmGKB)
HGVS:: NC_000007.14:g.95308134T>A, NC_000007.14:g.95308134T>C, NC_000007.14:g.95308134T>G, NC_000007.13:g.94937446T>A, NC_000007.13:g.94937446T>C, NC_000007.13:g.94937446T>G, NG_008779.2:g.21573A>T, NG_008779.2:g.21573A>G, NG_008779.2:g.21573A>C, NM_000446.7:c.575A>T, NM_000446.7:c.575A>G, NM_000446.7:c.575A>C, NM_000446.6:c.575A>T, NM_000446.6:c.575A>G, NM_000446.6:c.575A>C, NM_000446.5:c.575A>T, NM_000446.5:c.575A>G, NM_000446.5:c.575A>C, NP_000437.3:p.Gln192Leu, NP_000437.3:p.Gln192Arg, NP_000437.3:p.Gln192Pro

PubMed

Select item 6632.

rs663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:94429328 (GRCh38)
7:94058640 (GRCh37)
Canonical SPDI:: NC_000007.14:94429327:C:A,NC_000007.14:94429327:C:T
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (HapMap)
A=0.000008/1 (ExAC)
A=0.000016/4 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.94429328C>A, NC_000007.14:g.94429328C>T, NC_000007.13:g.94058640C>A, NC_000007.13:g.94058640C>T, NG_007405.1:g.39768C>A, NG_007405.1:g.39768C>T, NM_000089.4:c.3852C>A, NM_000089.4:c.3852C>T, NM_000089.3:c.3852C>A, NM_000089.3:c.3852C>T

Select item 11073.

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:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_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

Select item 16214.

rs1621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:116797552 (GRCh38)
7:116437606 (GRCh37)
Canonical SPDI:: NC_000007.14:116797551:G:A,NC_000007.14:116797551:G:C
Gene:: MET (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.339337/49647 (ALFA)
G=0.074074/16 (Vietnamese)
G=0.121502/356 (KOREAN)
G=0.127848/101 (PRJEB37584)
G=0.131892/2210 (TOMMO)
G=0.188976/96 (SGDP_PRJ)
G=0.25/12 (Siberian)
G=0.29544/1480 (1000Genomes)
G=0.3/12 (GENOME_DK)
G=0.311441/588 (HapMap)
G=0.32767/1215 (TWINSUK)
G=0.32823/1265 (ALSPAC)
G=0.335938/1505 (Estonian)
G=0.339679/339 (GoNL)
G=0.360391/95392 (TOPMED)
G=0.365741/79 (Qatari)
G=0.366846/51332 (GnomAD)
G=0.38764/207 (MGP)
G=0.405/243 (NorthernSweden)
HGVS:: NC_000007.14:g.116797552G>A, NC_000007.14:g.116797552G>C, NC_000007.13:g.116437606G>A, NC_000007.13:g.116437606G>C, NG_008996.1:g.130148G>A, NG_008996.1:g.130148G>C, NM_000245.4:c.*1428G>A, NM_000245.4:c.*1428G>C, NM_000245.3:c.*1428G>A, NM_000245.3:c.*1428G>C, NM_000245.2:c.*1428G>A, NM_000245.2:c.*1428G>C, NM_001127500.3:c.*1428G>A, NM_001127500.3:c.*1428G>C, NM_001127500.2:c.*1428G>A, NM_001127500.2:c.*1428G>C, NM_001127500.1:c.*1428G>A, NM_001127500.1:c.*1428G>C, NM_001324402.2:c.*1428G>A, NM_001324402.2:c.*1428G>C, NM_001324402.1:c.*1428G>A, NM_001324402.1:c.*1428G>C, XM_011516223.2:c.*1428G>A, XM_011516223.2:c.*1428G>C, XM_011516223.1:c.*1428G>A, XM_011516223.1:c.*1428G>C

PubMed

Select item 24725.

rs2472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94422138 (GRCh38)
7:94051450 (GRCh37)
Canonical SPDI:: NC_000007.14:94422137:T:C
Gene:: COL1A2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.053507/1799 (ALFA)
C=0.00463/1 (Qatari)
C=0.019366/22 (Daghestan)
C=0.022798/114 (1000Genomes)
C=0.04194/11101 (TOPMED)
C=0.044451/6225 (GnomAD)
C=0.05/224 (Estonian)
C=0.051515/17 (HapMap)
C=0.059601/221 (TWINSUK)
C=0.06876/265 (ALSPAC)
C=0.071667/43 (NorthernSweden)
C=0.079158/79 (GoNL)
C=0.1/4 (GENOME_DK)
T=0.5/1 (Siberian)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000007.14:g.94422138T>C, NC_000007.13:g.94051450T>C, NG_007405.1:g.32578T>C

PubMed

Select item 25866.

rs2586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:30979391 (GRCh38)
7:31019006 (GRCh37)
Canonical SPDI:: NC_000007.14:30979390:A:C
Gene:: GHRHR (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.034199/748 (ALFA)
C=0.015179/68 (Estonian)
C=0.018333/11 (NorthernSweden)
C=0.022833/88 (ALSPAC)
C=0.029126/108 (TWINSUK)
C=0.03507/35 (GoNL)
C=0.040299/5653 (GnomAD)
C=0.040814/10803 (TOPMED)
C=0.042942/215 (1000Genomes)
C=0.12037/26 (Qatari)
A=0.46/23 (SGDP_PRJ)
HGVS:: NC_000007.14:g.30979391A>C, NC_000007.13:g.31019006A>C, NG_021416.1:g.20371A>C, NM_000823.4:c.*147A>C, NM_000823.3:c.*147A>C

Select item 27417.

rs2741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:30975950 (GRCh38)
7:31015565 (GRCh37)
Canonical SPDI:: NC_000007.14:30975949:T:G
Gene:: GHRHR (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.107955/19936 (ALFA)
G=0.07515/75 (GoNL)
G=0.08/48 (NorthernSweden)
G=0.087946/394 (Estonian)
G=0.093023/8 (PRJEB36033)
G=0.096818/359 (TWINSUK)
G=0.097085/706 (GoESP)
G=0.102305/14337 (GnomAD)
G=0.110764/29318 (TOPMED)
G=0.113389/437 (ALSPAC)
G=0.120891/228 (HapMap)
G=0.125/5 (GENOME_DK)
G=0.129138/647 (1000Genomes)
G=0.132959/71 (MGP)
G=0.143519/31 (Qatari)
G=0.14486/31 (Vietnamese)
G=0.150192/313 (HGDP_Stanford)
G=0.152212/172 (Daghestan)
G=0.229803/421 (Korea1K)
G=0.23473/3934 (TOMMO)
G=0.243669/712 (KOREAN)
T=0.450704/64 (SGDP_PRJ)
T=0.5/4 (Siberian)
HGVS:: NC_000007.14:g.30975950T>G, NC_000007.13:g.31015565T>G, NG_021416.1:g.16930T>G, NM_001009824.1:c.*42T>G

PubMed

Select item 28778.

rs2877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:83135109 (GRCh38)
7:82764425 (GRCh37)
Canonical SPDI:: NC_000007.14:83135108:C:A,NC_000007.14:83135108:C:G,NC_000007.14:83135108:C:T
Gene:: PCLO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.314033/32991 (ALFA)
T=0./0 (KOREAN)
C=0.000283/5 (TOMMO)
C=0.001092/2 (Korea1K)
C=0.009772/6 (Vietnamese)
C=0.020202/16 (PRJEB37584)
C=0.110487/59 (SGDP_PRJ)
C=0.111111/6 (Siberian)
C=0.198626/995 (1000Genomes)
C=0.226969/17852 (PAGE_STUDY)
C=0.244311/60894 (GnomAD_exomes)
C=0.245359/29631 (ExAC)
C=0.257669/84 (HapMap)
C=0.273148/59 (Qatari)
C=0.275/11 (GENOME_DK)
C=0.281756/74578 (TOPMED)
C=0.290581/290 (GoNL)
C=0.293405/41052 (GnomAD)
C=0.296667/178 (NorthernSweden)
C=0.300431/1114 (TWINSUK)
C=0.310484/3696 (GoESP)
C=0.312662/1205 (ALSPAC)
C=0.315848/1415 (Estonian)
C=0.340824/182 (MGP)
HGVS:: NC_000007.14:g.83135109C>A, NC_000007.14:g.83135109C>G, NC_000007.14:g.83135109C>T, NC_000007.13:g.82764425C>A, NC_000007.13:g.82764425C>G, NC_000007.13:g.82764425C>T, NG_047145.1:g.32773G>T, NG_047145.1:g.32773G>C, NG_047145.1:g.32773G>A, NM_033026.6:c.2441G>T, NM_033026.6:c.2441G>C, NM_033026.6:c.2441G>A, NM_033026.5:c.2441G>T, NM_033026.5:c.2441G>C, NM_033026.5:c.2441G>A, NM_014510.3:c.2441G>T, NM_014510.3:c.2441G>C, NM_014510.3:c.2441G>A, NM_014510.2:c.2441G>T, NM_014510.2:c.2441G>C, NM_014510.2:c.2441G>A, XM_017012006.3:c.2441G>T, XM_017012006.3:c.2441G>C, XM_017012006.3:c.2441G>A, XM_017012006.2:c.2441G>T, XM_017012006.2:c.2441G>C, XM_017012006.2:c.2441G>A, XM_017012006.1:c.2441G>T, XM_017012006.1:c.2441G>C, XM_017012006.1:c.2441G>A, XM_047420210.1:c.2441G>T, XM_047420210.1:c.2441G>C, XM_047420210.1:c.2441G>A, XM_047420211.1:c.2441G>T, XM_047420211.1:c.2441G>C, XM_047420211.1:c.2441G>A, XM_047420212.1:c.2441G>T, XM_047420212.1:c.2441G>C, XM_047420212.1:c.2441G>A, XM_047420213.1:c.2441G>T, XM_047420213.1:c.2441G>C, XM_047420213.1:c.2441G>A, NP_149015.2:p.Ser814Ile, NP_149015.2:p.Ser814Thr, NP_149015.2:p.Ser814Asn, NP_055325.2:p.Ser814Ile, NP_055325.2:p.Ser814Thr, NP_055325.2:p.Ser814Asn, XP_016867495.1:p.Ser814Ile, XP_016867495.1:p.Ser814Thr, XP_016867495.1:p.Ser814Asn, XP_047276166.1:p.Ser814Ile, XP_047276166.1:p.Ser814Thr, XP_047276166.1:p.Ser814Asn, XP_047276167.1:p.Ser814Ile, XP_047276167.1:p.Ser814Thr, XP_047276167.1:p.Ser814Asn, XP_047276168.1:p.Ser814Ile, XP_047276168.1:p.Ser814Thr, XP_047276168.1:p.Ser814Asn, XP_047276169.1:p.Ser814Ile, XP_047276169.1:p.Ser814Thr, XP_047276169.1:p.Ser814Asn

PubMed

Select item 28959.

rs2895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:2529136 (GRCh38)
7:2568770 (GRCh37)
Canonical SPDI:: NC_000007.14:2529135:T:C
Gene:: LFNG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.089767/11887 (ALFA)
C=0.000546/1 (Korea1K)
C=0.000685/2 (KOREAN)
C=0.000991/17 (TOMMO)
C=0.00463/1 (Qatari)
C=0.009346/2 (Vietnamese)
C=0.04/24 (NorthernSweden)
C=0.044035/221 (1000Genomes)
C=0.046117/57 (HapMap)
C=0.066699/139 (HGDP_Stanford)
C=0.069357/9720 (GnomAD)
C=0.071429/4 (PRJEB36033)
C=0.072122/19090 (TOPMED)
C=0.083929/376 (Estonian)
C=0.09018/90 (GoNL)
C=0.101133/375 (TWINSUK)
C=0.105086/405 (ALSPAC)
C=0.191693/120 (Chileans)
T=0.4375/21 (SGDP_PRJ)
T=0.5/5 (Siberian)
HGVS:: NC_000007.14:g.2529136T>C, NC_000007.13:g.2568770T>C, NG_008109.2:g.21608T>C, NM_001040168.2:c.*250T>C, NM_001040168.1:c.*250T>C

PubMed

Select item 319410.

rs3194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:148417173 (GRCh38)
7:148114265 (GRCh37)
Canonical SPDI:: NC_000007.14:148417172:A:C,NC_000007.14:148417172:A:T
Gene:: CNTNAP2 (Varview), LOC105375554 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.441967/63478 (ALFA)
A=0.268601/787 (KOREAN)
A=0.273224/100 (SGDP_PRJ)
A=0.284486/4767 (TOMMO)
C=0.349554/1566 (Estonian)
C=0.357709/50100 (GnomAD)
C=0.361465/681 (HapMap)
C=0.384408/101749 (TOPMED)
C=0.3896/1951 (1000Genomes)
A=0.391304/18 (Siberian)
A=0.412037/89 (Vietnamese)
C=0.430556/93 (Qatari)
C=0.437876/437 (GoNL)
C=0.443176/1708 (ALSPAC)
C=0.453333/272 (NorthernSweden)
C=0.453614/1682 (TWINSUK)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.148417173A>C, NC_000007.14:g.148417173A>T, NC_000007.13:g.148114265A>C, NC_000007.13:g.148114265A>T, NG_007092.3:g.2306173A>C, NG_007092.3:g.2306173A>T, NM_014141.6:c.*1557A>C, NM_014141.6:c.*1557A>T, NM_014141.5:c.*1557A>C, NM_014141.5:c.*1557A>T, NT_187564.1:g.200768A>C, NT_187564.1:g.200768A>T

Select item 348711.

rs3487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:156683695 (GRCh38)
7:156476389 (GRCh37)
Canonical SPDI:: NC_000007.14:156683694:A:G,NC_000007.14:156683694:A:T
Gene:: LMBR1 (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:: G=0.214688/44121 (ALFA)
G=0.117647/4 (PRJEB36033)
G=0.15/6 (GENOME_DK)
G=0.170649/45169 (TOPMED)
G=0.177836/24928 (GnomAD)
G=0.186446/934 (1000Genomes)
G=0.194444/42 (Qatari)
G=0.204233/386 (HapMap)
G=0.213256/444 (HGDP_Stanford)
G=0.216667/130 (NorthernSweden)
G=0.22411/831 (TWINSUK)
G=0.23534/907 (ALSPAC)
G=0.235714/1056 (Estonian)
G=0.236473/236 (GoNL)
G=0.273148/59 (Vietnamese)
G=0.276408/314 (Daghestan)
A=0.416667/10 (Siberian)
G=0.425218/779 (Korea1K)
G=0.425939/1248 (KOREAN)
A=0.451456/93 (SGDP_PRJ)
G=0.459516/7701 (TOMMO)
HGVS:: NC_000007.14:g.156683695A>G, NC_000007.14:g.156683695A>T, NC_000007.13:g.156476389A>G, NC_000007.13:g.156476389A>T, NG_009240.2:g.214514T>C, NG_009240.2:g.214514T>A, NM_022458.4:c.*383T>C, NM_022458.4:c.*383T>A, NM_022458.3:c.*383T>C, NM_022458.3:c.*383T>A, NM_001363413.2:c.*383T>C, NM_001363413.2:c.*383T>A, NM_001363413.1:c.*383T>C, NM_001363413.1:c.*383T>A, NM_001350955.2:c.*383T>C, NM_001350955.2:c.*383T>A, NM_001350955.1:c.*383T>C, NM_001350955.1:c.*383T>A, NM_001350953.2:c.*383T>C, NM_001350953.2:c.*383T>A, NM_001350953.1:c.*383T>C, NM_001350953.1:c.*383T>A, NM_001363411.2:c.*383T>C, NM_001363411.2:c.*383T>A, NM_001363411.1:c.*383T>C, NM_001363411.1:c.*383T>A, NM_001350956.2:c.*383T>C, NM_001350956.2:c.*383T>A, NM_001350956.1:c.*383T>C, NM_001350956.1:c.*383T>A, NM_001363409.2:c.*383T>C, NM_001363409.2:c.*383T>A, NM_001363409.1:c.*383T>C, NM_001363409.1:c.*383T>A, NM_001350957.2:c.*383T>C, NM_001350957.2:c.*383T>A, NM_001350957.1:c.*383T>C, NM_001350957.1:c.*383T>A, NM_001350958.2:c.*383T>C, NM_001350958.2:c.*383T>A, NM_001350958.1:c.*383T>C, NM_001350958.1:c.*383T>A, NR_146958.2:n.1891T>C, NR_146958.2:n.1891T>A, NR_146958.1:n.1916T>C, NR_146958.1:n.1916T>A, NM_001363410.2:c.*383T>C, NM_001363410.2:c.*383T>A, NM_001363410.1:c.*383T>C, NM_001363410.1:c.*383T>A, NM_001363412.2:c.*383T>C, NM_001363412.2:c.*383T>A, NM_001363412.1:c.*383T>C, NM_001363412.1:c.*383T>A, NM_001350954.2:c.*383T>C, NM_001350954.2:c.*383T>A, NM_001350954.1:c.*383T>C, NM_001350954.1:c.*383T>A, NR_146959.2:n.2046T>C, NR_146959.2:n.2046T>A, NR_146959.1:n.2071T>C, NR_146959.1:n.2071T>A, XM_017012515.3:c.*459T>C, XM_017012515.3:c.*459T>A, XM_017012515.1:c.*459T>C, XM_017012515.1:c.*459T>A, XM_005249558.3:c.*459T>C, XM_005249558.3:c.*459T>A, XM_005249558.2:c.*459T>C, XM_005249558.2:c.*459T>A, XM_005249558.1:c.*459T>C, XM_005249558.1:c.*459T>A, XM_047420703.1:c.*383T>C, XM_047420703.1:c.*383T>A, XR_007060136.1:n.1884T>C, XR_007060136.1:n.1884T>A, XR_007060133.1:n.2046T>C, XR_007060133.1:n.2046T>A, XR_007060132.1:n.2169T>C, XR_007060132.1:n.2169T>A, XR_007060130.1:n.2169T>C, XR_007060130.1:n.2169T>A, XR_007060134.1:n.2046T>C, XR_007060134.1:n.2046T>A, XR_007060131.1:n.2169T>C, XR_007060131.1:n.2169T>A, XR_007060135.1:n.2046T>C, XR_007060135.1:n.2046T>A, XR_007060137.1:n.1564T>C, XR_007060137.1:n.1564T>A

Select item 384212.

rs3842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:87504050 (GRCh38)
7:87133366 (GRCh37)
Canonical SPDI:: NC_000007.14:87504049:T:C
Gene:: ABCB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.144412/24088 (ALFA)
C=0.112723/505 (Estonian)
C=0.125/5 (GENOME_DK)
C=0.13233/510 (ALSPAC)
C=0.134269/134 (GoNL)
C=0.144013/534 (TWINSUK)
C=0.147456/481 (PRJEB37766)
C=0.149798/74 (PharmGKB)
C=0.155682/21811 (GnomAD)
C=0.159232/42147 (TOPMED)
C=0.176667/106 (NorthernSweden)
C=0.17676/13911 (PAGE_STUDY)
C=0.185353/928 (1000Genomes)
C=0.21254/400 (HapMap)
C=0.212963/46 (Qatari)
C=0.27985/4690 (TOMMO)
C=0.29476/540 (Korea1K)
C=0.304847/239 (PRJEB37584)
C=0.306143/897 (KOREAN)
C=0.320755/68 (Vietnamese)
T=0.416667/5 (Siberian)
T=0.427835/83 (SGDP_PRJ)
HGVS:: NC_000007.14:g.87504050T>C, NC_000007.13:g.87133366T>C, NG_011513.1:g.214199A>G, NM_000927.5:c.*193A>G, NM_000927.4:c.*193A>G, NM_001348945.2:c.*193A>G, NM_001348945.1:c.*193A>G, NM_001348944.2:c.*193A>G, NM_001348944.1:c.*193A>G, NM_001348946.2:c.*193A>G, NM_001348946.1:c.*193A>G

PubMed

Select item 391713.

rs3917 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GCTGTCC,GT,GTTG,GTTGTCC,GTTGTGC [Show Flanks]
Chromosome:: 7:94431047 (GRCh38)
7:94060360 (GRCh37)
Canonical SPDI:: NC_000007.14:94431047::G,NC_000007.14:94431047::GCTGTCC,NC_000007.14:94431047::GT,NC_000007.14:94431047::GTTG,NC_000007.14:94431047::GTTGTCC,NC_000007.14:94431047::GTTGTGC
Gene:: COL1A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
-=0.064265/1077 (TOMMO)
-=0.074782/137 (Korea1K)
-=0.212061/1062 (1000Genomes)
-=0.297457/78734 (TOPMED)
-=0.411273/1525 (TWINSUK)
-=0.426051/1642 (ALSPAC)
-=0.45/18 (GENOME_DK)
-=0.454241/2035 (Estonian)
-=0.455/273 (NorthernSweden)
HGVS:: NC_000007.14:g.94431047_94431048insG, NC_000007.14:g.94431047_94431048insGCTGTCC, NC_000007.14:g.94431047_94431048insGT, NC_000007.14:g.94431047_94431048insGTTG, NC_000007.14:g.94431047_94431048insGTTGTCC, NC_000007.14:g.94431047_94431048insGTTGTGC, NC_000007.13:g.94060359_94060360insG, NC_000007.13:g.94060359_94060360insGCTGTCC, NC_000007.13:g.94060359_94060360insGT, NC_000007.13:g.94060359_94060360insGTTG, NC_000007.13:g.94060359_94060360insGTTGTCC, NC_000007.13:g.94060359_94060360insGTTGTGC, NG_007405.1:g.41487_41488insG, NG_007405.1:g.41487_41488insGCTGTCC, NG_007405.1:g.41487_41488insGT, NG_007405.1:g.41487_41488insGTTG, NG_007405.1:g.41487_41488insGTTGTCC, NG_007405.1:g.41487_41488insGTTGTGC, NM_000089.4:c.*654_*655insG, NM_000089.4:c.*654_*655insGCTGTCC, NM_000089.4:c.*654_*655insGT, NM_000089.4:c.*654_*655insGTTG, NM_000089.4:c.*654_*655insGTTGTCC, NM_000089.4:c.*654_*655insGTTGTGC, NM_000089.3:c.*654_*655insG, NM_000089.3:c.*654_*655insGCTGTCC, NM_000089.3:c.*654_*655insGT, NM_000089.3:c.*654_*655insGTTG, NM_000089.3:c.*654_*655insGTTGTCC, NM_000089.3:c.*654_*655insGTTGTGC

PubMed

Select item 426614.

rs4266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:94421296 (GRCh38)
7:94050608 (GRCh37)
Canonical SPDI:: NC_000007.14:94421295:T:C,NC_000007.14:94421295:T:G
Gene:: COL1A2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.135605/2599 (ALFA)
G=0.018692/4 (Vietnamese)
G=0.081878/150 (Korea1K)
G=0.083618/245 (KOREAN)
G=0.085/51 (NorthernSweden)
G=0.1/4 (GENOME_DK)
G=0.101562/455 (Estonian)
G=0.109218/109 (GoNL)
G=0.113985/1910 (TOMMO)
G=0.12972/481 (TWINSUK)
G=0.131292/506 (ALSPAC)
G=0.143973/721 (1000Genomes)
G=0.145455/48 (HapMap)
G=0.165025/23120 (GnomAD)
G=0.168854/44694 (TOPMED)
G=0.236111/51 (Qatari)
T=0.421053/48 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000007.14:g.94421296T>C, NC_000007.14:g.94421296T>G, NC_000007.13:g.94050608T>C, NC_000007.13:g.94050608T>G, NG_007405.1:g.31736T>C, NG_007405.1:g.31736T>G

Select item 427815.

rs4278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:92134788 (GRCh38)
7:91764102 (GRCh37)
Canonical SPDI:: NC_000007.14:92134787:C:A,NC_000007.14:92134787:C:T
Gene:: CYP51A1 (Varview), CYP51A1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00406/57 (ALFA)
T=0.00026/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.00463/1 (Qatari)
T=0.0242/121 (1000Genomes)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.92134788C>A, NC_000007.14:g.92134788C>T, NC_000007.13:g.91764102C>A, NC_000007.13:g.91764102C>T, NG_007968.1:g.4739G>T, NG_007968.1:g.4739G>A, NM_001146152.2:c.-246G>T, NM_001146152.2:c.-246G>A, NR_122109.1:n.226C>A, NR_122109.1:n.226C>T, NR_122110.1:n.226C>A, NR_122110.1:n.226C>T

Select item 427916.

rs4279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:92134814 (GRCh38)
7:91764128 (GRCh37)
Canonical SPDI:: NC_000007.14:92134813:C:A
Gene:: CYP51A1 (Varview), CYP51A1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.398787/14011 (ALFA)
A=0.162664/298 (Korea1K)
A=0.168224/36 (Vietnamese)
A=0.194352/3257 (TOMMO)
A=0.198152/579 (KOREAN)
C=0.323529/11 (Siberian)
A=0.325/13 (GENOME_DK)
A=0.353685/1771 (1000Genomes)
A=0.355828/116 (HapMap)
A=0.360714/1616 (Estonian)
A=0.363727/363 (GoNL)
A=0.384304/1425 (TWINSUK)
A=0.400104/1542 (ALSPAC)
A=0.40119/106191 (TOPMED)
A=0.403526/56517 (GnomAD)
C=0.414384/121 (SGDP_PRJ)
A=0.431667/259 (NorthernSweden)
A=0.435185/94 (Qatari)
HGVS:: NC_000007.14:g.92134814C>A, NC_000007.13:g.91764128C>A, NG_007968.1:g.4713G>T, NR_122109.1:n.252C>A, NR_122110.1:n.252C>A

Select item 451817.

rs4518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:107919746 (GRCh38)
7:107560191 (GRCh37)
Canonical SPDI:: NC_000007.14:107919745:C:T
Gene:: DLD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.39445/56314 (ALFA)
C=0.122408/2051 (TOMMO)
C=0.138646/254 (Korea1K)
C=0.139932/410 (KOREAN)
C=0.153846/8 (Siberian)
C=0.182243/39 (Vietnamese)
C=0.212851/106 (SGDP_PRJ)
C=0.255556/483 (HapMap)
C=0.283417/1419 (1000Genomes)
C=0.327814/86769 (TOPMED)
C=0.334119/46772 (GnomAD)
C=0.365741/79 (Qatari)
C=0.409152/1833 (Estonian)
C=0.41152/1586 (ALSPAC)
C=0.413161/1532 (TWINSUK)
C=0.421844/421 (GoNL)
C=0.428333/257 (NorthernSweden)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000007.14:g.107919746C>T, NC_000007.13:g.107560191C>T, NG_008045.1:g.33606C>T, NM_000108.5:c.*487C>T, NM_000108.4:c.*487C>T, NM_000108.3:c.*487C>T, NM_001289751.1:c.*487C>T, NM_001289752.1:c.*487C>T, NM_001289750.1:c.*487C>T

Select item 452618.

rs4526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140015781 (GRCh38)
7:139715581 (GRCh37)
Canonical SPDI:: NC_000007.14:140015780:G:A
Gene:: TBXAS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003179/839 (ALFA)
A=0.00027/1 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.003333/2 (NorthernSweden)
A=0.00463/1 (Qatari)
A=0.005267/1320 (GnomAD_exomes)
A=0.006644/804 (ExAC)
A=0.01839/2578 (GnomAD)
A=0.019663/7 (PharmGKB)
A=0.019959/5283 (TOPMED)
A=0.021298/277 (GoESP)
A=0.022642/113 (1000Genomes)
A=0.033232/2612 (PAGE_STUDY)
A=0.047207/71 (HapMap)
G=0.464286/13 (SGDP_PRJ)
HGVS:: NC_000007.14:g.140015781G>A, NC_000007.13:g.139715581G>A, NG_008422.2:g.242400G>A, NM_001061.7:c.1285G>A, NM_001061.6:c.1285G>A, NM_001061.5:c.1285G>A, NM_001061.4:c.1288G>A, NM_030984.6:c.1285G>A, NM_030984.5:c.1285G>A, NM_030984.4:c.1285G>A, NM_030984.3:c.1288G>A, NM_001130966.5:c.1285G>A, NM_001130966.4:c.1285G>A, NM_001130966.3:c.1285G>A, NM_001130966.2:c.1288G>A, NM_001166254.4:c.1084G>A, NM_001166254.3:c.1084G>A, NM_001166254.2:c.1084G>A, NM_001166254.1:c.1084G>A, NM_001166253.4:c.1423G>A, NM_001166253.3:c.1423G>A, NM_001166253.2:c.1423G>A, NM_001166253.1:c.1426G>A, NM_001314028.4:c.1228G>A, NM_001314028.3:c.1228G>A, NM_001314028.2:c.1228G>A, NM_001314028.1:c.1228G>A, NM_001366537.3:c.1102G>A, NM_001366537.2:c.1102G>A, NM_001366537.1:c.1102G>A, XM_011516544.4:c.1288G>A, XM_011516544.3:c.1288G>A, XM_011516544.2:c.1288G>A, XM_011516544.1:c.1288G>A, NR_029394.1:n.1552G>A, NP_001052.3:p.Ala429Thr, NP_112246.3:p.Ala429Thr, NP_001124438.2:p.Ala429Thr, NP_001159726.1:p.Ala362Thr, NP_001159725.2:p.Ala475Thr, NP_001300957.1:p.Ala410Thr, NP_001353466.1:p.Ala368Thr, XP_011514846.1:p.Ala430Thr

Select item 452719.

rs4527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140015798 (GRCh38)
7:139715598 (GRCh37)
Canonical SPDI:: NC_000007.14:140015797:C:T
Gene:: TBXAS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003177/818 (ALFA)
T=0.000035/1 (TOMMO)
T=0.00027/1 (TWINSUK)
T=0.000778/3 (ALSPAC)
T=0.001873/1 (MGP)
T=0.003333/2 (NorthernSweden)
T=0.00463/1 (Qatari)
T=0.004909/1231 (GnomAD_exomes)
T=0.006197/750 (ExAC)
T=0.01715/2405 (GnomAD)
T=0.018618/4928 (TOPMED)
T=0.019988/100 (1000Genomes)
T=0.019991/260 (GoESP)
T=0.022346/8 (PharmGKB)
T=0.026291/2069 (PAGE_STUDY)
T=0.054833/59 (HapMap)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.140015798C>T, NC_000007.13:g.139715598C>T, NG_008422.2:g.242417C>T, NM_001061.7:c.1302C>T, NM_001061.6:c.1302C>T, NM_001061.5:c.1302C>T, NM_001061.4:c.1305C>T, NM_030984.6:c.1302C>T, NM_030984.5:c.1302C>T, NM_030984.4:c.1302C>T, NM_030984.3:c.1305C>T, NM_001130966.5:c.1302C>T, NM_001130966.4:c.1302C>T, NM_001130966.3:c.1302C>T, NM_001130966.2:c.1305C>T, NM_001166254.4:c.1101C>T, NM_001166254.3:c.1101C>T, NM_001166254.2:c.1101C>T, NM_001166254.1:c.1101C>T, NM_001166253.4:c.1440C>T, NM_001166253.3:c.1440C>T, NM_001166253.2:c.1440C>T, NM_001166253.1:c.1443C>T, NM_001314028.4:c.1245C>T, NM_001314028.3:c.1245C>T, NM_001314028.2:c.1245C>T, NM_001314028.1:c.1245C>T, NM_001366537.3:c.1119C>T, NM_001366537.2:c.1119C>T, NM_001366537.1:c.1119C>T, XM_011516544.4:c.1305C>T, XM_011516544.3:c.1305C>T, XM_011516544.2:c.1305C>T, XM_011516544.1:c.1305C>T, NR_029394.1:n.1569C>T

Select item 452820.

rs4528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:140015742 (GRCh38)
7:139715542 (GRCh37)
Canonical SPDI:: NC_000007.14:140015741:C:G
Gene:: TBXAS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002461/110 (ALFA)
G=0.002139/535 (GnomAD_exomes)
G=0.002753/333 (ExAC)
G=0.008535/1197 (GnomAD)
G=0.009026/2389 (TOPMED)
G=0.009259/2 (Qatari)
G=0.009457/123 (GoESP)
G=0.012492/63 (1000Genomes)
G=0.014045/5 (PharmGKB)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.140015742C>G, NC_000007.13:g.139715542C>G, NG_008422.2:g.242361C>G, NM_001061.7:c.1246C>G, NM_001061.6:c.1246C>G, NM_001061.5:c.1246C>G, NM_001061.4:c.1249C>G, NM_030984.6:c.1246C>G, NM_030984.5:c.1246C>G, NM_030984.4:c.1246C>G, NM_030984.3:c.1249C>G, NM_001130966.5:c.1246C>G, NM_001130966.4:c.1246C>G, NM_001130966.3:c.1246C>G, NM_001130966.2:c.1249C>G, NM_001166254.4:c.1045C>G, NM_001166254.3:c.1045C>G, NM_001166254.2:c.1045C>G, NM_001166254.1:c.1045C>G, NM_001166253.4:c.1384C>G, NM_001166253.3:c.1384C>G, NM_001166253.2:c.1384C>G, NM_001166253.1:c.1387C>G, NM_001314028.4:c.1189C>G, NM_001314028.3:c.1189C>G, NM_001314028.2:c.1189C>G, NM_001314028.1:c.1189C>G, NM_001366537.3:c.1063C>G, NM_001366537.2:c.1063C>G, NM_001366537.1:c.1063C>G, XM_011516544.4:c.1249C>G, XM_011516544.3:c.1249C>G, XM_011516544.2:c.1249C>G, XM_011516544.1:c.1249C>G, NR_029394.1:n.1513C>G, NP_001052.3:p.Gln416Glu, NP_112246.3:p.Gln416Glu, NP_001124438.2:p.Gln416Glu, NP_001159726.1:p.Gln349Glu, NP_001159725.2:p.Gln462Glu, NP_001300957.1:p.Gln397Glu, NP_001353466.1:p.Gln355Glu, XP_011514846.1:p.Gln417Glu

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