SNP Links for PMC (Select 2664150) - SNP

Select item 102604041.

rs10260404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:154513713 (GRCh38)
7:154210798 (GRCh37)
Canonical SPDI:: NC_000007.14:154513712:T:A,NC_000007.14:154513712:T:C
Gene:: DPP6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.369438/120281 (ALFA)
C=0.147569/2473 (TOMMO)
C=0.151201/277 (Korea1K)
C=0.158879/34 (Vietnamese)
C=0.164846/483 (KOREAN)
C=0.16962/134 (PRJEB37584)
C=0.296296/560 (HapMap)
C=0.305184/24018 (PAGE_STUDY)
C=0.308541/643 (HGDP_Stanford)
C=0.309806/1552 (1000Genomes)
C=0.337963/73 (Qatari)
C=0.345332/91406 (TOPMED)
C=0.35336/49445 (GnomAD)
C=0.355134/1591 (Estonian)
T=0.356/89 (SGDP_PRJ)
C=0.358333/215 (NorthernSweden)
T=0.384615/10 (Siberian)
C=0.387776/387 (GoNL)
C=0.39698/1472 (TWINSUK)
C=0.4/16 (GENOME_DK)
C=0.4/32 (PRJEB36033)
C=0.401142/1546 (ALSPAC)
C=0.409171/464 (Daghestan)
HGVS:: NC_000007.14:g.154513713T>A, NC_000007.14:g.154513713T>C, NC_000007.13:g.154210798T>A, NC_000007.13:g.154210798T>C, NG_033878.2:g.770728T>A, NG_033878.2:g.770728T>C, NW_012132919.1:g.91362T>A, NW_012132919.1:g.91362T>C

PubMed

Select item 69552512.

rs6955251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:47933437 (GRCh38)
7:47973034 (GRCh37)
Canonical SPDI:: NC_000007.14:47933436:G:A,NC_000007.14:47933436:G:C
Gene:: PKD1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.214531/45937 (ALFA)
A=0.097561/8 (PRJEB36033)
A=0.125/5 (GENOME_DK)
A=0.185714/832 (Estonian)
A=0.191667/115 (NorthernSweden)
A=0.208417/208 (GoNL)
A=0.213285/822 (ALSPAC)
A=0.214671/796 (TWINSUK)
A=0.218162/30523 (GnomAD)
A=0.229767/60817 (TOPMED)
A=0.25/54 (Qatari)
A=0.279981/1402 (1000Genomes)
A=0.280288/583 (HGDP_Stanford)
A=0.291843/551 (HapMap)
A=0.298722/187 (Chileans)
A=0.316038/67 (Vietnamese)
G=0.401408/114 (SGDP_PRJ)
A=0.419454/1229 (KOREAN)
A=0.461639/7736 (TOMMO)
G=0.5/17 (Siberian)
HGVS:: NC_000007.14:g.47933437G>A, NC_000007.14:g.47933437G>C, NC_000007.13:g.47973034G>A, NC_000007.13:g.47973034G>C, NG_052801.1:g.30186C>T, NG_052801.1:g.30186C>G

PubMed

Select item 67001253.

rs6700125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:59237125 (GRCh38)
1:59702797 (GRCh37)
Canonical SPDI:: NC_000001.11:59237124:T:A,NC_000001.11:59237124:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.362611/114482 (ALFA)
T=0.236842/18 (PRJEB36033)
T=0.24/12 (Siberian)
T=0.267699/121 (SGDP_PRJ)
T=0.275/11 (GENOME_DK)
T=0.288333/173 (NorthernSweden)
T=0.329009/1268 (ALSPAC)
T=0.333667/333 (GoNL)
T=0.337109/1250 (TWINSUK)
T=0.355357/1592 (Estonian)
C=0.371429/78 (Vietnamese)
T=0.424012/59304 (GnomAD)
T=0.427719/113213 (TOPMED)
C=0.430556/93 (Qatari)
T=0.432342/901 (HGDP_Stanford)
T=0.432765/1268 (KOREAN)
T=0.439791/336 (PRJEB37584)
T=0.448144/821 (Korea1K)
T=0.452465/514 (Daghestan)
T=0.467208/2340 (1000Genomes)
T=0.467471/36790 (PAGE_STUDY)
C=0.480423/908 (HapMap)
T=0.493312/8268 (TOMMO)
HGVS:: NC_000001.11:g.59237125T>A, NC_000001.11:g.59237125T>C, NC_000001.10:g.59702797T>A, NC_000001.10:g.59702797T>C

PubMed

Select item 27089124.

rs2708912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:48046480 (GRCh38)
7:48086077 (GRCh37)
Canonical SPDI:: NC_000007.14:48046479:C:A,NC_000007.14:48046479:C:G,NC_000007.14:48046479:C:T
Gene:: C7orf57 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.093214/33481 (ALFA)
G=0./0 (KOREAN)
C=0.017857/1 (Siberian)
C=0.025/1 (GENOME_DK)
C=0.025/2 (PRJEB36033)
C=0.055921/17 (FINRISK)
C=0.059925/32 (MGP)
C=0.072133/278 (ALSPAC)
C=0.073333/44 (NorthernSweden)
C=0.074148/74 (GoNL)
C=0.077131/286 (TWINSUK)
C=0.077232/346 (Estonian)
C=0.108275/123 (Daghestan)
C=0.125279/1570 (GoESP)
C=0.127773/31692 (GnomAD_exomes)
C=0.128301/15354 (ExAC)
C=0.139535/19553 (GnomAD)
C=0.147728/39102 (TOPMED)
C=0.149621/79 (SGDP_PRJ)
C=0.162037/35 (Qatari)
C=0.177233/888 (1000Genomes)
C=0.184615/384 (HGDP_Stanford)
C=0.206878/391 (HapMap)
C=0.215148/16924 (PAGE_STUDY)
C=0.25/197 (PRJEB37584)
C=0.264738/485 (Korea1K)
C=0.269481/166 (Vietnamese)
C=0.35735/5988 (TOMMO)
HGVS:: NC_000007.14:g.48046480C>A, NC_000007.14:g.48046480C>G, NC_000007.14:g.48046480C>T, NC_000007.13:g.48086077C>A, NC_000007.13:g.48086077C>G, NC_000007.13:g.48086077C>T, XM_011515122.4:c.371C>A, XM_011515122.4:c.371C>G, XM_011515122.4:c.371C>T, XM_011515122.3:c.371C>A, XM_011515122.3:c.371C>G, XM_011515122.3:c.371C>T, XM_011515122.2:c.371C>A, XM_011515122.2:c.371C>G, XM_011515122.2:c.371C>T, XM_011515122.1:c.371C>A, XM_011515122.1:c.371C>G, XM_011515122.1:c.371C>T, XM_006715650.4:c.5C>A, XM_006715650.4:c.5C>G, XM_006715650.4:c.5C>T, XM_006715650.3:c.5C>A, XM_006715650.3:c.5C>G, XM_006715650.3:c.5C>T, XM_006715650.2:c.5C>A, XM_006715650.2:c.5C>G, XM_006715650.2:c.5C>T, XM_006715650.1:c.5C>A, XM_006715650.1:c.5C>G, XM_006715650.1:c.5C>T, NM_001100159.3:c.371C>A, NM_001100159.3:c.371C>G, NM_001100159.3:c.371C>T, NM_001100159.2:c.371C>A, NM_001100159.2:c.371C>G, NM_001100159.2:c.371C>T, XM_011515121.3:c.371C>A, XM_011515121.3:c.371C>G, XM_011515121.3:c.371C>T, XM_011515121.2:c.371C>A, XM_011515121.2:c.371C>G, XM_011515121.2:c.371C>T, XM_011515121.1:c.371C>A, XM_011515121.1:c.371C>G, XM_011515121.1:c.371C>T, XM_024446653.2:c.371C>A, XM_024446653.2:c.371C>G, XM_024446653.2:c.371C>T, XM_024446653.1:c.371C>A, XM_024446653.1:c.371C>G, XM_024446653.1:c.371C>T, NM_001267865.2:c.5C>A, NM_001267865.2:c.5C>G, NM_001267865.2:c.5C>T, NM_001267865.1:c.5C>A, NM_001267865.1:c.5C>G, NM_001267865.1:c.5C>T, NM_001267866.2:c.5C>A, NM_001267866.2:c.5C>G, NM_001267866.2:c.5C>T, NM_001267866.1:c.5C>A, NM_001267866.1:c.5C>G, NM_001267866.1:c.5C>T, XM_047419885.1:c.371C>A, XM_047419885.1:c.371C>G, XM_047419885.1:c.371C>T, XM_047419886.1:c.371C>A, XM_047419886.1:c.371C>G, XM_047419886.1:c.371C>T, XP_011513424.1:p.Pro124Gln, XP_011513424.1:p.Pro124Arg, XP_011513424.1:p.Pro124Leu, XP_006715713.1:p.Pro2Gln, XP_006715713.1:p.Pro2Arg, XP_006715713.1:p.Pro2Leu, NP_001093629.1:p.Pro124Gln, NP_001093629.1:p.Pro124Arg, NP_001093629.1:p.Pro124Leu, XP_011513423.1:p.Pro124Gln, XP_011513423.1:p.Pro124Arg, XP_011513423.1:p.Pro124Leu, XP_024302421.1:p.Pro124Gln, XP_024302421.1:p.Pro124Arg, XP_024302421.1:p.Pro124Leu, NP_001254794.1:p.Pro2Gln, NP_001254794.1:p.Pro2Arg, NP_001254794.1:p.Pro2Leu, NP_001254795.1:p.Pro2Gln, NP_001254795.1:p.Pro2Arg, NP_001254795.1:p.Pro2Leu, XP_047275841.1:p.Pro124Gln, XP_047275841.1:p.Pro124Arg, XP_047275841.1:p.Pro124Leu, XP_047275842.1:p.Pro124Gln, XP_047275842.1:p.Pro124Arg, XP_047275842.1:p.Pro124Leu

PubMed

Select item 27089095.

rs2708909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:48012082 (GRCh38)
7:48051679 (GRCh37)
Canonical SPDI:: NC_000007.14:48012081:G:A,NC_000007.14:48012081:G:T
Gene:: SUN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.48145/50974 (ALFA)
T=0.259259/56 (Qatari)
T=0.324333/5435 (TOMMO)
T=0.335282/631 (HapMap)
G=0.359375/115 (SGDP_PRJ)
T=0.360177/407 (Daghestan)
T=0.364164/1067 (KOREAN)
T=0.371955/1863 (1000Genomes)
T=0.381004/698 (Korea1K)
T=0.384357/801 (HGDP_Stanford)
G=0.386364/17 (Siberian)
G=0.402232/1802 (Estonian)
T=0.404568/107085 (TOPMED)
T=0.42129/59005 (GnomAD)
T=0.447368/34 (PRJEB36033)
G=0.45/18 (GENOME_DK)
T=0.471698/100 (Vietnamese)
G=0.48274/1790 (TWINSUK)
G=0.490982/490 (GoNL)
G=0.492735/1899 (ALSPAC)
G=0.496667/298 (NorthernSweden)
HGVS:: NC_000007.14:g.48012082G>A, NC_000007.14:g.48012082G>T, NC_000007.13:g.48051679G>A, NC_000007.13:g.48051679G>T

PubMed

Select item 27088516.

rs2708851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48046205 (GRCh38)
7:48085802 (GRCh37)
Canonical SPDI:: NC_000007.14:48046204:G:A
Gene:: C7orf57 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.483436/108808 (ALFA)
A=0.273148/59 (Qatari)
A=0.307692/24 (PRJEB36033)
G=0.35503/120 (SGDP_PRJ)
A=0.35696/5982 (TOMMO)
A=0.370763/700 (HapMap)
G=0.375/18 (Siberian)
A=0.403071/840 (HGDP_Stanford)
A=0.40381/2022 (1000Genomes)
A=0.418089/1225 (KOREAN)
A=0.428641/113457 (TOPMED)
A=0.437227/801 (Korea1K)
A=0.443484/61568 (GnomAD)
G=0.45/18 (GENOME_DK)
A=0.453704/98 (Vietnamese)
G=0.481392/1785 (TWINSUK)
G=0.486974/486 (GoNL)
G=0.491437/1894 (ALSPAC)
G=0.5/300 (NorthernSweden)
HGVS:: NC_000007.14:g.48046205G>A, NC_000007.13:g.48085802G>A

PubMed

Select item 26868317.

rs2686831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:47953389 (GRCh38)
7:47992986 (GRCh37)
Canonical SPDI:: NC_000007.14:47953388:T:C
Gene:: PKD1L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.498627/31241 (ALFA)
T=0.34375/132 (SGDP_PRJ)
C=0.375/81 (Qatari)
T=0.380952/16 (PRJEB36033)
T=0.383482/1718 (Estonian)
C=0.4/756 (HapMap)
C=0.422548/2116 (1000Genomes)
T=0.425/17 (Siberian)
T=0.433962/92 (Vietnamese)
T=0.443777/813 (Korea1K)
C=0.446027/118059 (TOPMED)
C=0.447217/932 (HGDP_Stanford)
T=0.45/18 (GENOME_DK)
T=0.458333/275 (NorthernSweden)
C=0.459962/64380 (GnomAD)
T=0.46041/1349 (KOREAN)
T=0.473015/1823 (ALSPAC)
T=0.478695/1775 (TWINSUK)
T=0.488978/488 (GoNL)
T=0.497735/8341 (TOMMO)
HGVS:: NC_000007.14:g.47953389T>C, NC_000007.13:g.47992986T>C, NG_052801.1:g.10234A>G, XM_017011798.3:c.-1029A>G, XM_017011798.2:c.-1029A>G, XM_017011798.1:c.-1029A>G

PubMed

Select item 26868218.

rs2686821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:47935485 (GRCh38)
7:47975082 (GRCh37)
Canonical SPDI:: NC_000007.14:47935484:G:A
Gene:: PKD1L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.493579/150195 (ALFA)
A=0.305556/66 (Qatari)
G=0.326633/130 (SGDP_PRJ)
G=0.383482/1718 (Estonian)
G=0.443333/266 (NorthernSweden)
G=0.45/18 (GENOME_DK)
G=0.45/18 (Siberian)
A=0.456522/42 (PRJEB36033)
G=0.467918/1371 (KOREAN)
A=0.475528/991 (HGDP_Stanford)
G=0.475869/1834 (ALSPAC)
G=0.476804/370 (PRJEB37584)
G=0.479335/67128 (GnomAD)
G=0.480852/1783 (TWINSUK)
A=0.484571/8120 (TOMMO)
G=0.48497/484 (GoNL)
A=0.485981/104 (Vietnamese)
G=0.489008/38483 (PAGE_STUDY)
G=0.489856/129660 (TOPMED)
A=0.490486/928 (HapMap)
A=0.499375/2501 (1000Genomes)
HGVS:: NC_000007.14:g.47935485G>A, NC_000007.13:g.47975082G>A, NG_052801.1:g.28138C>T

PubMed

Select item 23072529.

rs2307252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:47976845 (GRCh38)
7:48016442 (GRCh37)
Canonical SPDI:: NC_000007.14:47976844:G:A
Gene:: HUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.109537/25539 (ALFA)
A=0.005618/3 (MGP)
A=0.075/3 (GENOME_DK)
A=0.075658/23 (FINRISK)
A=0.087723/393 (Estonian)
A=0.095/57 (NorthernSweden)
A=0.095745/369 (ALSPAC)
A=0.1/4 (PRJEB36033)
A=0.10383/385 (TWINSUK)
A=0.114228/114 (GoNL)
A=0.142617/35316 (GnomAD_exomes)
A=0.147704/17710 (ExAC)
A=0.148148/32 (Qatari)
A=0.163002/2120 (GoESP)
A=0.169829/23717 (GnomAD)
A=0.175738/46516 (TOPMED)
A=0.18286/335 (Korea1K)
A=0.18666/389 (HGDP_Stanford)
A=0.205119/601 (KOREAN)
A=0.207839/1041 (1000Genomes)
A=0.226415/48 (Vietnamese)
A=0.234235/3925 (TOMMO)
A=0.2463/466 (HapMap)
G=0.410377/87 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000007.14:g.47976845G>A, NC_000007.13:g.48016442G>A

PubMed

Select item 230667710.

rs2306677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:26483453 (GRCh38)
12:26636386 (GRCh37)
Canonical SPDI:: NC_000012.12:26483452:A:C,NC_000012.12:26483452:A:G
Gene:: ITPR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.10755/35806 (ALFA)
A=0./0 (GENOME_DK)
A=0.064955/291 (Estonian)
A=0.085/51 (NorthernSweden)
A=0.092631/357 (ALSPAC)
A=0.10521/105 (GoNL)
A=0.110572/410 (TWINSUK)
A=0.142857/8 (Siberian)
A=0.145283/77 (SGDP_PRJ)
A=0.153388/21501 (GnomAD)
A=0.15625/325 (HGDP_Stanford)
A=0.1625/43012 (TOPMED)
A=0.177012/2967 (TOMMO)
A=0.19238/963 (1000Genomes)
A=0.195288/15368 (PAGE_STUDY)
A=0.206878/391 (HapMap)
A=0.208333/45 (Qatari)
A=0.211945/621 (KOREAN)
A=0.212336/389 (Korea1K)
A=0.238095/10 (PRJEB36033)
A=0.261682/56 (Vietnamese)
HGVS:: NC_000012.12:g.26483453A>C, NC_000012.12:g.26483453A>G, NC_000012.11:g.26636386A>C, NC_000012.11:g.26636386A>G, NG_042142.1:g.354746T>G, NG_042142.1:g.354746T>C

PubMed

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