SNP Links for PMC (Select 2943476) - SNP

Links from PMC

Items: 19

Select item 25352281.

rs2535228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:17531157 (GRCh38)
4:17532780 (GRCh37)
Canonical SPDI:: NC_000004.12:17531156:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.269435/41548 (ALFA)
A=0.010917/20 (Korea1K)
A=0.012663/37 (KOREAN)
A=0.019048/4 (Vietnamese)
A=0.023816/399 (TOMMO)
A=0.175719/110 (Chileans)
A=0.247321/1108 (Estonian)
A=0.262945/975 (TWINSUK)
A=0.269988/1352 (1000Genomes)
A=0.273482/1054 (ALSPAC)
A=0.275/11 (GENOME_DK)
A=0.278557/278 (GoNL)
A=0.281667/169 (NorthernSweden)
A=0.298971/23529 (PAGE_STUDY)
A=0.305214/80787 (TOPMED)
A=0.308536/43184 (GnomAD)
A=0.36119/510 (HapMap)
A=0.365741/79 (Qatari)
G=0.436782/76 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000004.12:g.17531157G>A, NC_000004.11:g.17532780G>A

PubMed

Select item 5845852.

rs584585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4118555 (GRCh38)
6:4118789 (GRCh37)
Canonical SPDI:: NC_000006.12:4118554:G:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.289071/8205 (ALFA)
A=0.222991/999 (Estonian)
A=0.273333/164 (NorthernSweden)
A=0.275/11 (GENOME_DK)
A=0.282407/61 (Qatari)
A=0.28972/62 (Vietnamese)
A=0.294843/41311 (GnomAD)
A=0.301339/540 (HapMap)
A=0.304711/80654 (TOPMED)
A=0.305122/1528 (1000Genomes)
A=0.324338/1250 (ALSPAC)
A=0.328749/1219 (TWINSUK)
A=0.346693/346 (GoNL)
G=0.363636/8 (Siberian)
A=0.384825/705 (Korea1K)
A=0.391468/1147 (KOREAN)
A=0.410928/6887 (TOMMO)
G=0.412698/104 (SGDP_PRJ)
A=0.413738/259 (Chileans)
HGVS:: NC_000006.12:g.4118555G>A, NC_000006.11:g.4118789G>A

PubMed

Select item 6260803.

rs626080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4101333 (GRCh38)
6:4101567 (GRCh37)
Canonical SPDI:: NC_000006.12:4101332:C:A,NC_000006.12:4101332:C:T
Gene:: C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.438688/86132 (ALFA)
T=0.214286/12 (PRJEB36033)
T=0.294393/63 (Vietnamese)
C=0.355769/111 (SGDP_PRJ)
C=0.357143/10 (Siberian)
T=0.375/81 (Qatari)
T=0.394105/722 (Korea1K)
T=0.405119/1187 (KOREAN)
T=0.409331/465 (Daghestan)
T=0.413942/861 (HGDP_Stanford)
T=0.416307/6977 (TOMMO)
T=0.427858/2143 (1000Genomes)
T=0.448038/845 (HapMap)
T=0.45/18 (GENOME_DK)
T=0.456473/2045 (Estonian)
T=0.461339/1778 (ALSPAC)
T=0.463259/290 (Chileans)
T=0.463667/122728 (TOPMED)
T=0.467368/1733 (TWINSUK)
T=0.467936/467 (GoNL)
T=0.47354/66218 (GnomAD)
T=0.493333/296 (NorthernSweden)
HGVS:: NC_000006.12:g.4101333C>A, NC_000006.12:g.4101333C>T, NC_000006.11:g.4101567C>A, NC_000006.11:g.4101567C>T

PubMed

Select item 6293624.

rs629362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:4121597 (GRCh38)
6:4121831 (GRCh37)
Canonical SPDI:: NC_000006.12:4121596:T:A,NC_000006.12:4121596:T:C
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.293527/7536 (ALFA)
C=0.222768/998 (Estonian)
C=0.273333/164 (NorthernSweden)
C=0.282407/61 (Qatari)
C=0.298203/41724 (GnomAD)
C=0.3/12 (GENOME_DK)
C=0.301282/564 (HapMap)
C=0.304653/1526 (1000Genomes)
C=0.308584/81679 (TOPMED)
C=0.324338/1250 (ALSPAC)
C=0.329018/1220 (TWINSUK)
C=0.345691/345 (GoNL)
T=0.363636/8 (Siberian)
C=0.384825/705 (Korea1K)
C=0.391468/1147 (KOREAN)
C=0.410928/6887 (TOMMO)
T=0.41129/102 (SGDP_PRJ)
C=0.415335/260 (Chileans)
HGVS:: NC_000006.12:g.4121597T>A, NC_000006.12:g.4121597T>C, NC_000006.11:g.4121831T>A, NC_000006.11:g.4121831T>C

PubMed

Select item 6332905.

rs633290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:4114554 (GRCh38)
6:4114788 (GRCh37)
Canonical SPDI:: NC_000006.12:4114553:A:G,NC_000006.12:4114553:A:T
Gene:: C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.317781/48196 (ALFA)
G=0.223438/1001 (Estonian)
G=0.25/18 (PRJEB36033)
G=0.273333/164 (NorthernSweden)
G=0.296296/64 (Qatari)
G=0.3/12 (GENOME_DK)
G=0.300926/65 (Vietnamese)
G=0.324598/1251 (ALSPAC)
G=0.328479/1218 (TWINSUK)
G=0.335359/46957 (GnomAD)
G=0.338641/638 (HapMap)
G=0.338695/1696 (1000Genomes)
G=0.340865/709 (HGDP_Stanford)
G=0.345691/345 (GoNL)
G=0.347561/91996 (TOPMED)
A=0.363636/8 (Siberian)
G=0.384825/705 (Korea1K)
G=0.39215/1149 (KOREAN)
A=0.39781/109 (SGDP_PRJ)
G=0.410892/6887 (TOMMO)
G=0.413738/259 (Chileans)
HGVS:: NC_000006.12:g.4114554A>G, NC_000006.12:g.4114554A>T, NC_000006.11:g.4114788A>G, NC_000006.11:g.4114788A>T

PubMed

Select item 6590256.

rs659025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4118817 (GRCh38)
6:4119051 (GRCh37)
Canonical SPDI:: NC_000006.12:4118816:C:A,NC_000006.12:4118816:C:T
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.282086/25412 (ALFA)
T=0.223214/1000 (Estonian)
T=0.273333/164 (NorthernSweden)
T=0.275/11 (GENOME_DK)
T=0.282407/61 (Qatari)
T=0.287736/61 (Vietnamese)
T=0.303723/571 (HapMap)
T=0.304726/80658 (TOPMED)
T=0.305122/1528 (1000Genomes)
T=0.316346/658 (HGDP_Stanford)
T=0.324079/1249 (ALSPAC)
T=0.328479/1218 (TWINSUK)
T=0.345691/345 (GoNL)
C=0.363636/8 (Siberian)
T=0.385371/706 (Korea1K)
T=0.392491/1150 (KOREAN)
T=0.4/24 (PRJEB36033)
T=0.410928/6887 (TOMMO)
T=0.412141/258 (Chileans)
C=0.412698/104 (SGDP_PRJ)
HGVS:: NC_000006.12:g.4118817C>A, NC_000006.12:g.4118817C>T, NC_000006.11:g.4119051C>A, NC_000006.11:g.4119051C>T

PubMed

Select item 6593057.

rs659305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:4125421 (GRCh38)
6:4125655 (GRCh37)
Canonical SPDI:: NC_000006.12:4125420:A:C,NC_000006.12:4125420:A:G
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.309014/82885 (ALFA)
G=0.222991/999 (Estonian)
G=0.272566/308 (Daghestan)
G=0.273333/164 (NorthernSweden)
G=0.275/11 (GENOME_DK)
G=0.282407/61 (Qatari)
G=0.299093/35750 (ExAC)
G=0.299477/3895 (GoESP)
G=0.301689/42272 (GnomAD)
G=0.302879/74433 (GnomAD_exomes)
G=0.305497/578 (HapMap)
G=0.306557/187 (Vietnamese)
G=0.309338/1549 (1000Genomes)
G=0.311874/82550 (TOPMED)
G=0.315789/96 (FINRISK)
G=0.324598/1251 (ALSPAC)
G=0.329288/1221 (TWINSUK)
G=0.342697/183 (MGP)
G=0.345691/345 (GoNL)
G=0.363636/8 (PRJEB36033)
A=0.363636/8 (Siberian)
G=0.384825/705 (Korea1K)
G=0.390102/1143 (KOREAN)
G=0.395939/312 (PRJEB37584)
G=0.410786/6885 (TOMMO)
G=0.412141/258 (Chileans)
A=0.412698/104 (SGDP_PRJ)
HGVS:: NC_000006.12:g.4125421A>C, NC_000006.12:g.4125421A>G, NC_000006.11:g.4125655A>C, NC_000006.11:g.4125655A>G, NR_104463.3:n.1866A>C, NR_104463.3:n.1866A>G, NR_104463.2:n.1866A>C, NR_104463.2:n.1866A>G, NR_104463.1:n.1869A>C, NR_104463.1:n.1869A>G, NR_104464.3:n.1212A>C, NR_104464.3:n.1212A>G, NR_104464.2:n.1212A>C, NR_104464.2:n.1212A>G, NR_104464.1:n.1215A>C, NR_104464.1:n.1215A>G, NM_206834.1:c.*438A>C, NM_206834.1:c.*438A>G

PubMed

Select item 6605608.

rs660560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:4125707 (GRCh38)
6:4125941 (GRCh37)
Canonical SPDI:: NC_000006.12:4125706:A:C,NC_000006.12:4125706:A:G
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.307073/22175 (ALFA)
G=0.223661/1002 (Estonian)
G=0.273333/164 (NorthernSweden)
G=0.282407/61 (Qatari)
G=0.287736/61 (Vietnamese)
G=0.3/12 (GENOME_DK)
G=0.305556/22 (PRJEB36033)
G=0.322009/45116 (GnomAD)
G=0.324079/1249 (ALSPAC)
G=0.325053/615 (HapMap)
G=0.326827/1637 (1000Genomes)
G=0.329018/1220 (TWINSUK)
G=0.333613/88304 (TOPMED)
G=0.335255/698 (HGDP_Stanford)
G=0.345691/345 (GoNL)
A=0.363636/8 (Siberian)
G=0.384825/705 (Korea1K)
G=0.390102/1143 (KOREAN)
A=0.401515/106 (SGDP_PRJ)
G=0.410751/6884 (TOMMO)
G=0.413738/259 (Chileans)
HGVS:: NC_000006.12:g.4125707A>C, NC_000006.12:g.4125707A>G, NC_000006.11:g.4125941A>C, NC_000006.11:g.4125941A>G, NR_104463.3:n.2152A>C, NR_104463.3:n.2152A>G, NR_104463.2:n.2152A>C, NR_104463.2:n.2152A>G, NR_104463.1:n.2155A>C, NR_104463.1:n.2155A>G, NR_104464.3:n.1498A>C, NR_104464.3:n.1498A>G, NR_104464.2:n.1498A>C, NR_104464.2:n.1498A>G, NR_104464.1:n.1501A>C, NR_104464.1:n.1501A>G, NM_206834.1:c.*724A>C, NM_206834.1:c.*724A>G

PubMed

Select item 6614049.

rs661404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:4125863 (GRCh38)
6:4126097 (GRCh37)
Canonical SPDI:: NC_000006.12:4125862:G:A,NC_000006.12:4125862:G:C
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.45199/14630 (ALFA)
G=0.269231/7 (Siberian)
A=0.29717/63 (Vietnamese)
G=0.328221/107 (SGDP_PRJ)
A=0.364732/1634 (Estonian)
A=0.366027/2937 (ExAC)
A=0.384825/705 (Korea1K)
A=0.391126/1146 (KOREAN)
A=0.393519/85 (Qatari)
A=0.403333/242 (NorthernSweden)
A=0.405632/40345 (GnomAD_exomes)
A=0.406367/217 (MGP)
A=0.410742/1583 (ALSPAC)
A=0.410822/6885 (TOMMO)
A=0.415318/1540 (TWINSUK)
A=0.425/17 (GENOME_DK)
A=0.43487/434 (GoNL)
A=0.455272/285 (Chileans)
G=0.475661/899 (HapMap)
G=0.477279/126331 (TOPMED)
G=0.483133/67686 (GnomAD)
G=0.498282/2495 (1000Genomes)
HGVS:: NC_000006.12:g.4125863G>A, NC_000006.12:g.4125863G>C, NC_000006.11:g.4126097G>A, NC_000006.11:g.4126097G>C, NG_074201.1:g.9G>A, NG_074201.1:g.9G>C, NR_104463.3:n.2308G>A, NR_104463.3:n.2308G>C, NR_104463.2:n.2308G>A, NR_104463.2:n.2308G>C, NR_104463.1:n.2311G>A, NR_104463.1:n.2311G>C, NR_104464.3:n.1654G>A, NR_104464.3:n.1654G>C, NR_104464.2:n.1654G>A, NR_104464.2:n.1654G>C, NR_104464.1:n.1657G>A, NR_104464.1:n.1657G>C, NM_206834.1:c.*880G>A, NM_206834.1:c.*880G>C

PubMed

Select item 85341610.

rs853416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:4112813 (GRCh38)
6:4113047 (GRCh37)
Canonical SPDI:: NC_000006.12:4112812:A:C,NC_000006.12:4112812:A:T
Gene:: C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.288777/5455 (ALFA)
T=0.223661/1002 (Estonian)
T=0.273333/164 (NorthernSweden)
T=0.275/11 (GENOME_DK)
T=0.282407/61 (Qatari)
T=0.291667/63 (Vietnamese)
T=0.3023/41975 (GnomAD)
T=0.307464/1540 (1000Genomes)
T=0.310212/82110 (TOPMED)
T=0.323819/1248 (ALSPAC)
T=0.328479/1218 (TWINSUK)
T=0.337452/355 (HapMap)
T=0.345691/345 (GoNL)
A=0.363636/8 (Siberian)
T=0.384825/705 (Korea1K)
T=0.39215/1149 (KOREAN)
T=0.4081/6840 (TOMMO)
A=0.412698/104 (SGDP_PRJ)
HGVS:: NC_000006.12:g.4112813A>C, NC_000006.12:g.4112813A>T, NC_000006.11:g.4113047A>C, NC_000006.11:g.4113047A>T

PubMed

Select item 1290369611.

rs12903696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:78146676 (GRCh38)
15:78439018 (GRCh37)
Canonical SPDI:: NC_000015.10:78146675:T:C
Gene:: LOC124903534 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.479843/12331 (ALFA)
T=0.214286/9 (Siberian)
C=0.291809/855 (KOREAN)
C=0.294324/4933 (TOMMO)
T=0.313131/124 (SGDP_PRJ)
C=0.32243/69 (Vietnamese)
T=0.347222/75 (Qatari)
C=0.392971/246 (Chileans)
T=0.445497/62350 (GnomAD)
T=0.448687/118763 (TOPMED)
T=0.45/18 (GENOME_DK)
T=0.456914/456 (GoNL)
T=0.458151/2294 (1000Genomes)
T=0.461376/872 (HapMap)
C=0.483333/290 (NorthernSweden)
C=0.487286/1878 (ALSPAC)
T=0.491741/2203 (Estonian)
T=0.493258/1829 (TWINSUK)
HGVS:: NC_000015.10:g.78146676T>C, NC_000015.9:g.78439018T>C, XR_007064725.1:n.1169A>G

PubMed

Select item 651193912.

rs6511939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14573613 (GRCh38)
19:14684425 (GRCh37)
Canonical SPDI:: NC_000019.10:14573612:G:A
Gene:: NDUFB7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.073774/5441 (ALFA)
A=0./0 (PRJEB36033)
A=0.010687/179 (TOMMO)
A=0.030801/90 (KOREAN)
A=0.033843/62 (Korea1K)
A=0.048333/29 (NorthernSweden)
A=0.05/2 (GENOME_DK)
A=0.051118/32 (Chileans)
A=0.058705/263 (Estonian)
A=0.064128/64 (GoNL)
A=0.064608/249 (ALSPAC)
A=0.065405/13413 (GENOGRAPHIC)
A=0.065804/244 (TWINSUK)
A=0.071977/150 (HGDP_Stanford)
A=0.074074/16 (Qatari)
A=0.09853/26080 (TOPMED)
A=0.099658/13930 (GnomAD)
A=0.101499/508 (1000Genomes)
A=0.112922/194 (HapMap)
G=0.444444/32 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000019.10:g.14573613G>A, NC_000019.9:g.14684425G>A

PubMed

Select item 713712013.

rs7137120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:7303001 (GRCh38)
12:7455597 (GRCh37)
Canonical SPDI:: NC_000012.12:7303000:A:C,NC_000012.12:7303000:A:G,NC_000012.12:7303000:A:T
Gene:: ACSM4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.162609/9725 (ALFA)
T=0./0 (KOREAN)
A=0.071429/15 (Vietnamese)
A=0.091762/1538 (TOMMO)
A=0.096667/58 (NorthernSweden)
A=0.107533/197 (Korea1K)
A=0.123438/553 (Estonian)
A=0.136364/72 (SGDP_PRJ)
A=0.144552/536 (TWINSUK)
A=0.146601/565 (ALSPAC)
A=0.15/6 (GENOME_DK)
A=0.160714/9 (Siberian)
A=0.161323/161 (GoNL)
A=0.170207/23832 (GnomAD)
A=0.17652/46723 (TOPMED)
A=0.179555/339 (HapMap)
A=0.183635/920 (1000Genomes)
A=0.333333/72 (Qatari)
HGVS:: NC_000012.12:g.7303001A>C, NC_000012.12:g.7303001A>G, NC_000012.12:g.7303001A>T, NC_000012.11:g.7455597A>C, NC_000012.11:g.7455597A>G, NC_000012.11:g.7455597A>T

PubMed

Select item 758071514.

rs7580715 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:208257535 (GRCh38)
2:209122259 (GRCh37)
Canonical SPDI:: NC_000002.12:208257534:T:A,NC_000002.12:208257534:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.032782/670 (ALFA)
T=0./0 (GENOME_DK)
T=0./0 (Siberian)
T=0./0 (Vietnamese)
T=0.001168/20 (TOMMO)
T=0.002729/5 (Korea1K)
T=0.004096/12 (KOREAN)
T=0.010787/40 (TWINSUK)
T=0.01183/53 (Estonian)
T=0.012714/49 (ALSPAC)
T=0.018116/10 (SGDP_PRJ)
T=0.021667/13 (NorthernSweden)
T=0.024048/24 (GoNL)
T=0.027778/6 (Qatari)
T=0.048784/6842 (GnomAD)
T=0.05075/254 (1000Genomes)
T=0.05078/13441 (TOPMED)
T=0.06105/100 (HapMap)
C=0.14794/79 (MGP)
HGVS:: NC_000002.12:g.208257535T>A, NC_000002.12:g.208257535T>C, NC_000002.11:g.209122259T>A, NC_000002.11:g.209122259T>C, NG_023319.2:g.13540A>T, NG_023319.2:g.13540A>G

PubMed

Select item 774462815.

rs7744628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:4119762 (GRCh38)
6:4119996 (GRCh37)
Canonical SPDI:: NC_000006.12:4119761:T:C,NC_000006.12:4119761:T:G
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.213778/4270 (ALFA)
C=0.223214/1000 (Estonian)
C=0.273333/164 (NorthernSweden)
C=0.275/11 (GENOME_DK)
C=0.282407/61 (Qatari)
C=0.283654/59 (Vietnamese)
C=0.304273/42586 (GnomAD)
C=0.307082/581 (HapMap)
C=0.310903/1557 (1000Genomes)
C=0.314564/83262 (TOPMED)
C=0.324598/1251 (ALSPAC)
C=0.329018/1220 (TWINSUK)
C=0.345691/345 (GoNL)
T=0.363636/8 (Siberian)
C=0.383734/703 (Korea1K)
C=0.392049/1144 (KOREAN)
C=0.410928/6887 (TOMMO)
C=0.412141/258 (Chileans)
T=0.413386/105 (SGDP_PRJ)
HGVS:: NC_000006.12:g.4119762T>C, NC_000006.12:g.4119762T>G, NC_000006.11:g.4119996T>C, NC_000006.11:g.4119996T>G

PubMed

Select item 796199116.

rs7961991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:7327532 (GRCh38)
12:7480128 (GRCh37)
Canonical SPDI:: NC_000012.12:7327531:T:C
Gene:: CD163L1 (Varview), ACSM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.18416/4411 (ALFA)
C=0.055556/12 (Vietnamese)
C=0.088754/1488 (TOMMO)
C=0.095/57 (NorthernSweden)
C=0.105895/194 (Korea1K)
C=0.117385/343 (KOREAN)
C=0.124777/559 (Estonian)
C=0.142173/89 (Chileans)
C=0.145631/540 (TWINSUK)
C=0.147639/569 (ALSPAC)
C=0.15/6 (GENOME_DK)
C=0.161323/161 (GoNL)
C=0.201524/28225 (GnomAD)
C=0.209664/55496 (TOPMED)
C=0.215728/406 (HapMap)
C=0.228295/1143 (1000Genomes)
C=0.351852/76 (Qatari)
T=0.411111/74 (SGDP_PRJ)
T=0.5/9 (Siberian)
HGVS:: NC_000012.12:g.7327532T>C, NC_000012.11:g.7480128T>C

PubMed

Select item 803261817.

rs8032618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:78159661 (GRCh38)
15:78452003 (GRCh37)
Canonical SPDI:: NC_000015.10:78159660:C:A,NC_000015.10:78159660:C:T
Gene:: IDH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.492143/38023 (ALFA)
C=0.214286/9 (Siberian)
T=0.291667/854 (KOREAN)
T=0.293864/4925 (TOMMO)
T=0.316038/67 (Vietnamese)
C=0.321244/124 (SGDP_PRJ)
C=0.361111/78 (Qatari)
T=0.391374/245 (Chileans)
C=0.45362/63456 (GnomAD)
C=0.455912/455 (GoNL)
C=0.457316/121047 (TOPMED)
C=0.466667/42 (PRJEB36033)
C=0.468301/2345 (1000Genomes)
C=0.470339/888 (HapMap)
C=0.475/19 (GENOME_DK)
T=0.478887/998 (HGDP_Stanford)
T=0.483333/290 (NorthernSweden)
T=0.487545/1879 (ALSPAC)
C=0.492179/1825 (TWINSUK)
C=0.492188/2205 (Estonian)
HGVS:: NC_000015.10:g.78159661C>A, NC_000015.10:g.78159661C>T, NC_000015.9:g.78452003C>A, NC_000015.9:g.78452003C>T

PubMed

Select item 950392218.

rs9503922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4121099 (GRCh38)
6:4121333 (GRCh37)
Canonical SPDI:: NC_000006.12:4121098:C:A,NC_000006.12:4121098:C:T
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.147962/2824 (ALFA)
T=0.003821/7 (Korea1K)
T=0.00591/99 (TOMMO)
T=0.00616/18 (KOREAN)
T=0.018519/4 (Vietnamese)
T=0.175/7 (GENOME_DK)
T=0.177233/888 (1000Genomes)
T=0.182432/324 (HapMap)
T=0.185491/831 (Estonian)
T=0.21246/133 (Chileans)
T=0.222222/48 (Qatari)
T=0.230908/61119 (TOPMED)
T=0.235607/33002 (GnomAD)
T=0.241667/145 (NorthernSweden)
T=0.265912/986 (TWINSUK)
T=0.269331/1038 (ALSPAC)
T=0.289579/289 (GoNL)
C=0.419643/47 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000006.12:g.4121099C>A, NC_000006.12:g.4121099C>T, NC_000006.11:g.4121333C>A, NC_000006.11:g.4121333C>T

PubMed

Select item 1185535419.

rs11855354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:78151289 (GRCh38)
15:78443631 (GRCh37)
Canonical SPDI:: NC_000015.10:78151288:G:A,NC_000015.10:78151288:G:C
Gene:: IDH3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.499387/111619 (ALFA)
G=0.214286/9 (Siberian)
A=0.291809/855 (KOREAN)
A=0.293722/4923 (TOMMO)
G=0.322165/125 (SGDP_PRJ)
A=0.327103/70 (Vietnamese)
G=0.356481/77 (Qatari)
A=0.394569/247 (Chileans)
G=0.454007/63511 (GnomAD)
G=0.456914/456 (GoNL)
G=0.457365/121060 (TOPMED)
G=0.467676/2342 (1000Genomes)
G=0.47093/891 (HapMap)
G=0.475/19 (GENOME_DK)
A=0.483333/290 (NorthernSweden)
A=0.487286/1878 (ALSPAC)
G=0.491741/2203 (Estonian)
G=0.492718/1827 (TWINSUK)
HGVS:: NC_000015.10:g.78151289G>A, NC_000015.10:g.78151289G>C, NC_000015.9:g.78443631G>A, NC_000015.9:g.78443631G>C

PubMed

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