rs281865157
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs281865157(A;G) |
Make rs281865157(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 31108591 |
Gene | WRN |
is a | snp |
is | mentioned by |
dbSNP | rs281865157 |
dbSNP (classic) | rs281865157 |
ClinGen | rs281865157 |
ebi | rs281865157 |
HLI | rs281865157 |
Exac | rs281865157 |
Gnomad | rs281865157 |
Varsome | rs281865157 |
LitVar | rs281865157 |
Map | rs281865157 |
PheGenI | rs281865157 |
Biobank | rs281865157 |
1000 genomes | rs281865157 |
hgdp | rs281865157 |
ensembl | rs281865157 |
geneview | rs281865157 |
scholar | rs281865157 |
rs281865157 | |
pharmgkb | rs281865157 |
gwascentral | rs281865157 |
openSNP | rs281865157 |
23andMe | rs281865157 |
SNPshot | rs281865157 |
SNPdbe | rs281865157 |
MSV3d | rs281865157 |
GWAS Ctlg | rs281865157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865157(C;C) rs281865157(G;G) |
Alt | rs281865157(C;C) rs281865157(G;G) |
Reference | Rs281865157(A;A) |
Significance | Pathogenic |
Disease | Werner syndrome |
Variation | info |
Gene | WRN |
CLNDBN | Werner syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.30966107A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032135.1, |
[PMID 17478382] Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.