rs281865159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs281865159(A;C) |
Make rs281865159(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 31147362 |
Gene | WRN |
is a | snp |
is | mentioned by |
dbSNP | rs281865159 |
dbSNP (classic) | rs281865159 |
ClinGen | rs281865159 |
ebi | rs281865159 |
HLI | rs281865159 |
Exac | rs281865159 |
Gnomad | rs281865159 |
Varsome | rs281865159 |
LitVar | rs281865159 |
Map | rs281865159 |
PheGenI | rs281865159 |
Biobank | rs281865159 |
1000 genomes | rs281865159 |
hgdp | rs281865159 |
ensembl | rs281865159 |
geneview | rs281865159 |
scholar | rs281865159 |
rs281865159 | |
pharmgkb | rs281865159 |
gwascentral | rs281865159 |
openSNP | rs281865159 |
23andMe | rs281865159 |
SNPshot | rs281865159 |
SNPdbe | rs281865159 |
MSV3d | rs281865159 |
GWAS Ctlg | rs281865159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865159(C;C) |
Alt | rs281865159(C;C) |
Reference | Rs281865159(A;A) |
Significance | Pathogenic |
Disease | Werner syndrome |
Variation | info |
Gene | WRN |
CLNDBN | Werner syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.31004878A>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032138.1, |
[PMID 20443122] WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.