rs587779826
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587779826(C;C) |
Make rs587779826(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108267344 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs587779826 |
dbSNP (classic) | rs587779826 |
ClinGen | rs587779826 |
ebi | rs587779826 |
HLI | rs587779826 |
Exac | rs587779826 |
Gnomad | rs587779826 |
Varsome | rs587779826 |
LitVar | rs587779826 |
Map | rs587779826 |
PheGenI | rs587779826 |
Biobank | rs587779826 |
1000 genomes | rs587779826 |
hgdp | rs587779826 |
ensembl | rs587779826 |
geneview | rs587779826 |
scholar | rs587779826 |
rs587779826 | |
pharmgkb | rs587779826 |
gwascentral | rs587779826 |
openSNP | rs587779826 |
23andMe | rs587779826 |
SNPshot | rs587779826 |
SNPdbe | rs587779826 |
MSV3d | rs587779826 |
GWAS Ctlg | rs587779826 |
Max Magnitude | 0 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]
ClinVar | |
---|---|
Risk | rs587779826(C;C) |
Alt | rs587779826(C;C) |
Reference | Rs587779826(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108138071T>C |
CLNSRC | |
CLNACC | RCV000115162.8, RCV000211986.2, RCV000477335.1, |