SNP Links for PMC (Select 2668036) - SNP

Select item 124857381.

rs12485738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 3:56831748 (GRCh38)
3:56865776 (GRCh37)
Canonical SPDI:: NC_000003.12:56831747:A:C,NC_000003.12:56831747:A:G,NC_000003.12:56831747:A:T
Gene:: ARHGEF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.375763/80484 (ALFA)
T=0./0 (KOREAN)
A=0.25/13 (Siberian)
A=0.283019/120 (SGDP_PRJ)
A=0.306604/65 (Vietnamese)
A=0.308929/1384 (Estonian)
A=0.318333/191 (NorthernSweden)
A=0.362445/664 (Korea1K)
A=0.363636/16 (PRJEB36033)
A=0.368617/51630 (GnomAD)
A=0.369289/291 (PRJEB37584)
A=0.375/81 (Qatari)
A=0.376754/376 (GoNL)
A=0.380952/720 (HapMap)
A=0.385315/101989 (TOPMED)
A=0.393198/6590 (TOMMO)
A=0.400709/452 (Daghestan)
A=0.401468/2011 (1000Genomes)
A=0.40924/32208 (PAGE_STUDY)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.56831748A>C, NC_000003.12:g.56831748A>G, NC_000003.12:g.56831748A>T, NC_000003.11:g.56865776A>C, NC_000003.11:g.56865776A>G, NC_000003.11:g.56865776A>T

Select item 79618942.

rs7961894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121927677 (GRCh38)
12:122365583 (GRCh37)
Canonical SPDI:: NC_000012.12:121927676:C:T
Gene:: CFAP251 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.098747/30589 (ALFA)
T=0.032324/162 (1000Genomes)
T=0.03263/68 (HGDP_Stanford)
T=0.035524/40 (Daghestan)
T=0.037037/8 (Qatari)
T=0.037991/2990 (PAGE_STUDY)
T=0.042683/42 (HapMap)
T=0.070059/18544 (TOPMED)
T=0.073333/44 (NorthernSweden)
T=0.074163/10392 (GnomAD)
T=0.079872/50 (Chileans)
T=0.084152/377 (Estonian)
T=0.111111/8 (PRJEB36033)
T=0.11165/414 (TWINSUK)
T=0.114228/114 (GoNL)
T=0.118578/457 (ALSPAC)
T=0.15/6 (GENOME_DK)
C=0.461538/12 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.121927677C>T, NC_000012.11:g.122365583C>T, NG_021364.2:g.14121C>T

Select item 21388523.

rs2138852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:29376331 (GRCh38)
17:27703349 (GRCh37)
Canonical SPDI:: NC_000017.11:29376330:C:G,NC_000017.11:29376330:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.442538/85994 (ALFA)
C=0.014019/3 (Vietnamese)
C=0.025444/426 (TOMMO)
C=0.029693/87 (KOREAN)
C=0.037879/30 (PRJEB37584)
C=0.039301/72 (Korea1K)
C=0.184615/96 (SGDP_PRJ)
C=0.210582/398 (HapMap)
C=0.235514/18534 (PAGE_STUDY)
C=0.246721/1236 (1000Genomes)
C=0.326923/17 (Siberian)
C=0.343549/90934 (TOPMED)
C=0.356787/49923 (GnomAD)
C=0.4/16 (GENOME_DK)
C=0.416667/10 (PRJEB36033)
C=0.426667/256 (NorthernSweden)
C=0.452906/452 (GoNL)
C=0.474831/1830 (ALSPAC)
C=0.486111/105 (Qatari)
C=0.488403/1811 (TWINSUK)
C=0.489732/2194 (Estonian)
HGVS:: NC_000017.11:g.29376331C>G, NC_000017.11:g.29376331C>T, NC_000017.10:g.27703349C>G, NC_000017.10:g.27703349C>T

dbSNP