rs587782054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | Breast cancer associated mutation |
(C;C) | 0 | common in clinvar |
Make rs587782054(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108289094 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs587782054 |
dbSNP (classic) | rs587782054 |
ClinGen | rs587782054 |
ebi | rs587782054 |
HLI | rs587782054 |
Exac | rs587782054 |
Gnomad | rs587782054 |
Varsome | rs587782054 |
LitVar | rs587782054 |
Map | rs587782054 |
PheGenI | rs587782054 |
Biobank | rs587782054 |
1000 genomes | rs587782054 |
hgdp | rs587782054 |
ensembl | rs587782054 |
geneview | rs587782054 |
scholar | rs587782054 |
rs587782054 | |
pharmgkb | rs587782054 |
gwascentral | rs587782054 |
openSNP | rs587782054 |
23andMe | rs587782054 |
SNPshot | rs587782054 |
SNPdbe | rs587782054 |
MSV3d | rs587782054 |
GWAS Ctlg | rs587782054 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587782054(-;-) |
Alt | rs587782054(-;-) |
Reference | Rs587782054(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108159821delC |
CLNSRC | |
CLNACC | RCV000130524.2, |