RCAN2 - SNP

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Select item 7164931.

rs716493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:46340205 (GRCh38)
6:46307942 (GRCh37)
Canonical SPDI:: NC_000006.12:46340204:C:A,NC_000006.12:46340204:C:G,NC_000006.12:46340204:C:T
Gene:: RCAN2 (Varview), LOC101926915 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.462619/8428 (ALFA)
G=0./0 (KOREAN)
C=0.204545/9 (Siberian)
C=0.277202/107 (SGDP_PRJ)
T=0.319444/69 (Qatari)
C=0.364486/78 (Vietnamese)
C=0.387009/709 (Korea1K)
T=0.403661/106845 (TOPMED)
T=0.411774/2062 (1000Genomes)
C=0.414732/1858 (Estonian)
T=0.417408/58438 (GnomAD)
T=0.420732/138 (HapMap)
C=0.438885/7356 (TOMMO)
C=0.478333/287 (NorthernSweden)
C=0.488843/1884 (ALSPAC)
C=0.495146/1836 (TWINSUK)
C=0.498998/498 (GoNL)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.46340205C>A, NC_000006.12:g.46340205C>G, NC_000006.12:g.46340205C>T, NC_000006.11:g.46307942C>A, NC_000006.11:g.46307942C>G, NC_000006.11:g.46307942C>T, NG_030437.1:g.156863G>T, NG_030437.1:g.156863G>C, NG_030437.1:g.156863G>A

Select item 7686052.

rs768605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46265589 (GRCh38)
6:46233326 (GRCh37)
Canonical SPDI:: NC_000006.12:46265588:C:T
Gene:: RCAN2 (Varview), LOC105375079 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.188881/4770 (ALFA)
C=0.071429/4 (Siberian)
C=0.138616/621 (Estonian)
C=0.165331/165 (GoNL)
C=0.174364/672 (ALSPAC)
C=0.176375/654 (TWINSUK)
C=0.2/120 (NorthernSweden)
C=0.2/8 (GENOME_DK)
C=0.206827/103 (SGDP_PRJ)
C=0.213409/29882 (GnomAD)
C=0.232189/61458 (TOPMED)
C=0.234756/77 (HapMap)
C=0.255715/4286 (TOMMO)
C=0.259259/14 (PRJEB36033)
C=0.265284/486 (Korea1K)
C=0.266553/781 (KOREAN)
C=0.268519/58 (Qatari)
C=0.268582/1345 (1000Genomes)
C=0.32243/69 (Vietnamese)
HGVS:: NC_000006.12:g.46265589C>T, NC_000006.11:g.46233326C>T, NG_030437.1:g.231479G>A

Select item 8674713.

rs867471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:46465032 (GRCh38)
6:46432769 (GRCh37)
Canonical SPDI:: NC_000006.12:46465031:A:T
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.031233/590 (ALFA)
T=0.002053/6 (KOREAN)
T=0.006579/2 (HapMap)
T=0.01002/10 (GoNL)
T=0.011667/7 (NorthernSweden)
T=0.014024/52 (TWINSUK)
T=0.015828/61 (ALSPAC)
T=0.016964/76 (Estonian)
T=0.025/1 (GENOME_DK)
T=0.036945/619 (TOMMO)
T=0.03959/5551 (GnomAD)
T=0.043243/11446 (TOPMED)
T=0.058869/295 (1000Genomes)
T=0.074074/16 (Qatari)
A=0.5/1 (Siberian)
A=0.5/28 (SGDP_PRJ)
HGVS:: NC_000006.12:g.46465032A>T, NC_000006.11:g.46432769A>T, NG_030437.1:g.32036T>A

Select item 8717284.

rs871728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:46484882 (GRCh38)
6:46452619 (GRCh37)
Canonical SPDI:: NC_000006.12:46484881:C:G,NC_000006.12:46484881:C:T
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.464725/34398 (ALFA)
T=0.277778/60 (Qatari)
C=0.3125/15 (Siberian)
C=0.321809/121 (SGDP_PRJ)
T=0.337209/638 (HapMap)
T=0.369769/1852 (1000Genomes)
C=0.378571/1696 (Estonian)
C=0.385772/385 (GoNL)
T=0.394048/6604 (TOMMO)
T=0.396833/827 (HGDP_Stanford)
C=0.4/16 (GENOME_DK)
C=0.400363/1543 (ALSPAC)
C=0.40507/1502 (TWINSUK)
T=0.409091/18 (PRJEB36033)
T=0.42532/112578 (TOPMED)
C=0.431667/259 (NorthernSweden)
T=0.436102/273 (Chileans)
T=0.442382/61968 (GnomAD)
C=0.442875/90823 (GENOGRAPHIC)
T=0.443925/95 (Vietnamese)
C=0.479863/1406 (KOREAN)
C=0.491197/558 (Daghestan)
C=0.492904/903 (Korea1K)
HGVS:: NC_000006.12:g.46484882C>G, NC_000006.12:g.46484882C>T, NC_000006.11:g.46452619C>G, NC_000006.11:g.46452619C>T, NG_030437.1:g.12186G>C, NG_030437.1:g.12186G>A

Select item 8761215.

rs876121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46467186 (GRCh38)
6:46434923 (GRCh37)
Canonical SPDI:: NC_000006.12:46467185:T:C
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.495045/106902 (ALFA)
T=0.222222/12 (Siberian)
T=0.305687/129 (SGDP_PRJ)
C=0.398148/86 (Qatari)
T=0.423848/423 (GoNL)
C=0.424339/802 (HapMap)
C=0.435041/2179 (1000Genomes)
C=0.441369/116826 (TOPMED)
C=0.44758/62672 (GnomAD)
T=0.45096/1738 (ALSPAC)
T=0.460938/2065 (Estonian)
T=0.465529/1364 (KOREAN)
T=0.46919/533 (Daghestan)
T=0.471698/100 (Vietnamese)
T=0.473253/867 (Korea1K)
C=0.473684/36 (PRJEB36033)
T=0.47411/1758 (TWINSUK)
C=0.475/19 (GENOME_DK)
C=0.478407/997 (HGDP_Stanford)
T=0.481667/289 (NorthernSweden)
T=0.483187/99090 (GENOGRAPHIC)
T=0.494727/8292 (TOMMO)
HGVS:: NC_000006.12:g.46467186T>C, NC_000006.11:g.46434923T>C, NG_030437.1:g.29882A>G

Select item 9351066.

rs935106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:46336920 (GRCh38)
6:46304657 (GRCh37)
Canonical SPDI:: NC_000006.12:46336919:G:A,NC_000006.12:46336919:G:C,NC_000006.12:46336919:G:T
Gene:: RCAN2 (Varview), LOC101926915 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.43977/17100 (ALFA)
G=0.204545/9 (Siberian)
G=0.277202/107 (SGDP_PRJ)
A=0.319444/69 (Qatari)
G=0.37099/1087 (KOREAN)
G=0.387009/709 (Korea1K)
A=0.404923/107179 (TOPMED)
A=0.415053/2079 (1000Genomes)
A=0.416439/56903 (GnomAD)
G=0.419088/1875 (Estonian)
A=0.44702/135 (HapMap)
G=0.458464/7684 (TOMMO)
G=0.48/288 (NorthernSweden)
G=0.489102/1885 (ALSPAC)
G=0.497033/1843 (TWINSUK)
G=0.498998/498 (GoNL)
G=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.46336920G>A, NC_000006.12:g.46336920G>C, NC_000006.12:g.46336920G>T, NC_000006.11:g.46304657G>A, NC_000006.11:g.46304657G>C, NC_000006.11:g.46304657G>T, NG_030437.1:g.160148C>T, NG_030437.1:g.160148C>G, NG_030437.1:g.160148C>A

Select item 9351077.

rs935107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:46271238 (GRCh38)
6:46238975 (GRCh37)
Canonical SPDI:: NC_000006.12:46271237:G:A,NC_000006.12:46271237:G:C
Gene:: RCAN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.207269/1802 (ALFA)
G=0.071429/4 (Siberian)
G=0.138616/621 (Estonian)
G=0.165331/165 (GoNL)
G=0.174364/672 (ALSPAC)
G=0.176375/654 (TWINSUK)
G=0.2/120 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.204/102 (SGDP_PRJ)
G=0.212501/29762 (GnomAD)
G=0.231199/61196 (TOPMED)
G=0.256529/4299 (TOMMO)
G=0.263117/1318 (1000Genomes)
G=0.264738/485 (Korea1K)
G=0.265529/778 (KOREAN)
G=0.268519/58 (Qatari)
G=0.327103/70 (Vietnamese)
HGVS:: NC_000006.12:g.46271238G>A, NC_000006.12:g.46271238G>C, NC_000006.11:g.46238975G>A, NC_000006.11:g.46238975G>C, NG_030437.1:g.225830C>T, NG_030437.1:g.225830C>G

Select item 9351088.

rs935108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:46271193 (GRCh38)
6:46238930 (GRCh37)
Canonical SPDI:: NC_000006.12:46271192:G:C,NC_000006.12:46271192:G:T
Gene:: RCAN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.217638/1651 (ALFA)
G=0.071429/4 (Siberian)
G=0.138616/621 (Estonian)
G=0.165331/165 (GoNL)
G=0.173845/670 (ALSPAC)
G=0.176106/653 (TWINSUK)
G=0.2/120 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.206/103 (SGDP_PRJ)
G=0.23427/62009 (TOPMED)
G=0.239264/78 (HapMap)
G=0.256494/4299 (TOMMO)
G=0.264738/485 (Korea1K)
G=0.266553/781 (KOREAN)
G=0.267177/1338 (1000Genomes)
G=0.273148/59 (Qatari)
G=0.331776/71 (Vietnamese)
HGVS:: NC_000006.12:g.46271193G>C, NC_000006.12:g.46271193G>T, NC_000006.11:g.46238930G>C, NC_000006.11:g.46238930G>T, NG_030437.1:g.225875C>G, NG_030437.1:g.225875C>A

Select item 9351099.

rs935109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:46271096 (GRCh38)
6:46238833 (GRCh37)
Canonical SPDI:: NC_000006.12:46271095:T:A,NC_000006.12:46271095:T:C,NC_000006.12:46271095:T:G
Gene:: RCAN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.193594/3439 (ALFA)
G=0./0 (KOREAN)
T=0.071429/4 (Siberian)
T=0.138616/621 (Estonian)
T=0.165331/165 (GoNL)
T=0.174364/672 (ALSPAC)
T=0.176106/653 (TWINSUK)
T=0.2/120 (NorthernSweden)
T=0.2/8 (GENOME_DK)
T=0.206/103 (SGDP_PRJ)
T=0.214895/30112 (GnomAD)
T=0.234308/62019 (TOPMED)
T=0.254777/80 (HapMap)
T=0.256529/4299 (TOMMO)
T=0.264738/485 (Korea1K)
T=0.267177/1338 (1000Genomes)
T=0.273148/59 (Qatari)
T=0.324074/70 (Vietnamese)
HGVS:: NC_000006.12:g.46271096T>A, NC_000006.12:g.46271096T>C, NC_000006.12:g.46271096T>G, NC_000006.11:g.46238833T>A, NC_000006.11:g.46238833T>C, NC_000006.11:g.46238833T>G, NG_030437.1:g.225972A>T, NG_030437.1:g.225972A>G, NG_030437.1:g.225972A>C

Select item 94713510.

rs947135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:46356921 (GRCh38)
6:46324658 (GRCh37)
Canonical SPDI:: NC_000006.12:46356920:G:A,NC_000006.12:46356920:G:T
Gene:: RCAN2 (Varview), LOC101926915 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.457279/8638 (ALFA)
G=0.208333/10 (Siberian)
G=0.25/111 (SGDP_PRJ)
A=0.333333/10 (PRJEB36033)
G=0.37099/1087 (KOREAN)
G=0.380134/1703 (Estonian)
G=0.3881/711 (Korea1K)
G=0.405053/6789 (TOMMO)
G=0.443435/1709 (ALSPAC)
G=0.445892/445 (GoNL)
G=0.45/270 (NorthernSweden)
A=0.453704/98 (Qatari)
G=0.45685/1694 (TWINSUK)
G=0.475/19 (GENOME_DK)
G=0.477358/2391 (1000Genomes)
G=0.487047/68018 (GnomAD)
G=0.49578/131228 (TOPMED)
HGVS:: NC_000006.12:g.46356921G>A, NC_000006.12:g.46356921G>T, NC_000006.11:g.46324658G>A, NC_000006.11:g.46324658G>T, NG_030437.1:g.140147C>T, NG_030437.1:g.140147C>A

Select item 94713611.

rs947136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46485093 (GRCh38)
6:46452830 (GRCh37)
Canonical SPDI:: NC_000006.12:46485092:G:A
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.490247/9350 (ALFA)
A=0.236111/51 (Qatari)
A=0.295789/23278 (PAGE_STUDY)
G=0.3125/15 (Siberian)
G=0.340116/117 (SGDP_PRJ)
A=0.342442/1715 (1000Genomes)
A=0.353659/116 (HapMap)
G=0.385937/1729 (Estonian)
A=0.394083/6605 (TOMMO)
A=0.396766/105020 (TOPMED)
G=0.398798/398 (GoNL)
G=0.4/16 (GENOME_DK)
G=0.413337/1593 (ALSPAC)
A=0.413646/57908 (GnomAD)
G=0.419903/1557 (TWINSUK)
G=0.443333/266 (NorthernSweden)
A=0.447619/94 (Vietnamese)
G=0.479863/1406 (KOREAN)
G=0.492904/903 (Korea1K)
HGVS:: NC_000006.12:g.46485093G>A, NC_000006.11:g.46452830G>A, NG_030437.1:g.11975C>T

Select item 94713712.

rs947137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:46444440 (GRCh38)
6:46412177 (GRCh37)
Canonical SPDI:: NC_000006.12:46444439:T:C,NC_000006.12:46444439:T:G
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.459926/8688 (ALFA)
T=0.23913/11 (Siberian)
T=0.251111/113 (SGDP_PRJ)
C=0.333333/8 (PRJEB36033)
T=0.375/81 (Vietnamese)
T=0.376109/1102 (KOREAN)
T=0.393013/720 (Korea1K)
T=0.39442/1767 (Estonian)
T=0.405301/6793 (TOMMO)
C=0.425/17 (GENOME_DK)
T=0.42986/429 (GoNL)
C=0.439815/95 (Qatari)
T=0.44/264 (NorthernSweden)
T=0.448625/1729 (ALSPAC)
T=0.459277/1703 (TWINSUK)
T=0.47561/156 (HapMap)
T=0.484509/67806 (GnomAD)
T=0.485478/2431 (1000Genomes)
T=0.494484/130885 (TOPMED)
HGVS:: NC_000006.12:g.46444440T>C, NC_000006.12:g.46444440T>G, NC_000006.11:g.46412177T>C, NC_000006.11:g.46412177T>G, NG_030437.1:g.52628A>G, NG_030437.1:g.52628A>C

Select item 95388713.

rs953887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:46394341 (GRCh38)
6:46362078 (GRCh37)
Canonical SPDI:: NC_000006.12:46394340:G:T
Gene:: RCAN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.470725/8892 (ALFA)
G=0.217391/10 (Siberian)
G=0.274194/102 (SGDP_PRJ)
T=0.282407/61 (Qatari)
T=0.374766/1877 (1000Genomes)
G=0.376792/1104 (KOREAN)
T=0.380368/124 (HapMap)
T=0.382991/101374 (TOPMED)
G=0.393519/85 (Vietnamese)
G=0.393559/721 (Korea1K)
G=0.397321/1780 (Estonian)
T=0.401013/56145 (GnomAD)
G=0.442105/7410 (TOMMO)
G=0.458918/458 (GoNL)
G=0.459004/1769 (ALSPAC)
G=0.46/276 (NorthernSweden)
G=0.468986/1739 (TWINSUK)
G=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.46394341G>T, NC_000006.11:g.46362078G>T, NG_030437.1:g.102727C>A

PubMed LitVar

Select item 100943914.

rs1009439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46319028 (GRCh38)
6:46286765 (GRCh37)
Canonical SPDI:: NC_000006.12:46319027:T:C
Gene:: RCAN2 (Varview), LOC101926915 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.040795/2219 (ALFA)
T=0.013889/3 (Qatari)
T=0.01503/15 (GoNL)
T=0.035714/2 (Siberian)
T=0.036408/135 (TWINSUK)
T=0.042634/191 (Estonian)
T=0.043333/26 (NorthernSweden)
T=0.04878/188 (ALSPAC)
T=0.049059/6880 (GnomAD)
T=0.058/15352 (TOPMED)
T=0.074534/24 (HapMap)
T=0.094444/51 (SGDP_PRJ)
T=0.094691/7452 (PAGE_STUDY)
T=0.1/4 (GENOME_DK)
T=0.100094/501 (1000Genomes)
T=0.195626/3279 (TOMMO)
T=0.223799/410 (Korea1K)
T=0.229693/673 (KOREAN)
T=0.278302/59 (Vietnamese)
HGVS:: NC_000006.12:g.46319028T>C, NC_000006.11:g.46286765T>C, NG_030437.1:g.178040A>G

Select item 105709915.

rs1057099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46246823 (GRCh38)
6:46214560 (GRCh37)
Canonical SPDI:: NC_000006.12:46246822:C:T
Gene:: RCAN2 (Varview), LOC105375079 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0./0 (HapMap)
HGVS:: NC_000006.12:g.46246823C>T, NC_000006.11:g.46214560C>T, NG_030437.1:g.250245G>A, NM_005822.4:c.358G>A, NM_005822.3:c.358G>A, NM_001251974.2:c.496G>A, NM_001251974.1:c.496G>A, NM_001251973.2:c.496G>A, NM_001251973.1:c.496G>A, XM_011514226.2:c.496G>A, XM_011514226.1:c.496G>A, XM_024446301.2:c.496G>A, XM_024446301.1:c.496G>A, NP_005813.2:p.Gly120Ser, NP_001238903.1:p.Gly166Ser, NP_001238902.1:p.Gly166Ser, XP_011512528.1:p.Gly166Ser, XP_024302069.1:p.Gly166Ser

Select item 105710016.

rs1057100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46222103 (GRCh38)
6:46189840 (GRCh37)
Canonical SPDI:: NC_000006.12:46222102:T:C
Gene:: RCAN2 (Varview), LOC105375079 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
HGVS:: NC_000006.12:g.46222103T>C, NC_000006.11:g.46189840T>C, NG_030437.1:g.274965A>G, NM_005822.4:c.*1038A>G, NM_005822.3:c.*1038A>G, NM_001251974.2:c.*1038A>G, NM_001251974.1:c.*1038A>G, NM_001251973.2:c.*1038A>G, NM_001251973.1:c.*1038A>G, XM_011514226.2:c.*1038A>G, XM_011514226.1:c.*1038A>G, XM_024446301.2:c.*1038A>G, XM_024446301.1:c.*1038A>G

Select item 105710117.

rs1057101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46221915 (GRCh38)
6:46189652 (GRCh37)
Canonical SPDI:: NC_000006.12:46221914:A:G
Gene:: RCAN2 (Varview), LOC105375079 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
HGVS:: NC_000006.12:g.46221915A>G, NC_000006.11:g.46189652A>G, NG_030437.1:g.275153T>C, NM_005822.4:c.*1226T>C, NM_005822.3:c.*1226T>C, NM_001251974.2:c.*1226T>C, NM_001251974.1:c.*1226T>C, NM_001251973.2:c.*1226T>C, NM_001251973.1:c.*1226T>C, XM_011514226.2:c.*1226T>C, XM_011514226.1:c.*1226T>C, XM_024446301.2:c.*1226T>C, XM_024446301.1:c.*1226T>C

Select item 105710218.

rs1057102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46221774 (GRCh38)
6:46189511 (GRCh37)
Canonical SPDI:: NC_000006.12:46221773:G:A
Gene:: RCAN2 (Varview), LOC105375079 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005453/103 (ALFA)
A=0.000781/4 (1000Genomes)
A=0.003838/1016 (TOPMED)
A=0.004402/617 (GnomAD)
A=0.005968/23 (ALSPAC)
A=0.006027/27 (Estonian)
A=0.007551/28 (TWINSUK)
A=0.01/6 (NorthernSweden)
A=0.024048/24 (GoNL)
G=0.5/1 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000006.12:g.46221774G>A, NC_000006.11:g.46189511G>A, NG_030437.1:g.275294C>T, NM_005822.4:c.*1367C>T, NM_005822.3:c.*1367C>T, NM_001251974.2:c.*1367C>T, NM_001251974.1:c.*1367C>T, NM_001251973.2:c.*1367C>T, NM_001251973.1:c.*1367C>T, XM_011514226.2:c.*1367C>T, XM_011514226.1:c.*1367C>T, XM_024446301.2:c.*1367C>T, XM_024446301.1:c.*1367C>T

Select item 107897619.

rs1078976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:46270548 (GRCh38)
6:46238285 (GRCh37)
Canonical SPDI:: NC_000006.12:46270547:C:A,NC_000006.12:46270547:C:G,NC_000006.12:46270547:C:T
Gene:: RCAN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.207204/9664 (ALFA)
G=0./0 (KOREAN)
C=0.071429/4 (Siberian)
C=0.138616/621 (Estonian)
C=0.165331/165 (GoNL)
C=0.174624/673 (ALSPAC)
C=0.176375/654 (TWINSUK)
C=0.2/120 (NorthernSweden)
C=0.2/8 (GENOME_DK)
C=0.204/102 (SGDP_PRJ)
C=0.212571/29782 (GnomAD)
C=0.231221/61202 (TOPMED)
C=0.232394/264 (Daghestan)
C=0.245342/79 (HapMap)
C=0.256565/4300 (TOMMO)
C=0.262961/1317 (1000Genomes)
C=0.264738/485 (Korea1K)
C=0.268519/58 (Qatari)
C=0.349057/74 (Vietnamese)
HGVS:: NC_000006.12:g.46270548C>A, NC_000006.12:g.46270548C>G, NC_000006.12:g.46270548C>T, NC_000006.11:g.46238285C>A, NC_000006.11:g.46238285C>G, NC_000006.11:g.46238285C>T, NG_030437.1:g.226520G>T, NG_030437.1:g.226520G>C, NG_030437.1:g.226520G>A

Select item 107897720.

rs1078977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:46270873 (GRCh38)
6:46238610 (GRCh37)
Canonical SPDI:: NC_000006.12:46270872:G:A,NC_000006.12:46270872:G:T
Gene:: RCAN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.192355/3417 (ALFA)
G=0.071429/4 (Siberian)
G=0.138616/621 (Estonian)
G=0.16129/10 (PRJEB36033)
G=0.165331/165 (GoNL)
G=0.174624/673 (ALSPAC)
G=0.176375/654 (TWINSUK)
G=0.2/120 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.206/103 (SGDP_PRJ)
G=0.212741/29779 (GnomAD)
G=0.231481/75 (HapMap)
G=0.231913/61385 (TOPMED)
G=0.256529/4299 (TOMMO)
G=0.263585/1320 (1000Genomes)
G=0.264738/485 (Korea1K)
G=0.26587/779 (KOREAN)
G=0.273148/59 (Qatari)
G=0.336449/72 (Vietnamese)
HGVS:: NC_000006.12:g.46270873G>A, NC_000006.12:g.46270873G>T, NC_000006.11:g.46238610G>A, NC_000006.11:g.46238610G>T, NG_030437.1:g.226195C>T, NG_030437.1:g.226195C>A

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