rs587779866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6 | Breast cancer associated mutation |
Make rs587779866(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108331877 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587779866 |
dbSNP (classic) | rs587779866 |
ClinGen | rs587779866 |
ebi | rs587779866 |
HLI | rs587779866 |
Exac | rs587779866 |
Gnomad | rs587779866 |
Varsome | rs587779866 |
LitVar | rs587779866 |
Map | rs587779866 |
PheGenI | rs587779866 |
Biobank | rs587779866 |
1000 genomes | rs587779866 |
hgdp | rs587779866 |
ensembl | rs587779866 |
geneview | rs587779866 |
scholar | rs587779866 |
rs587779866 | |
pharmgkb | rs587779866 |
gwascentral | rs587779866 |
openSNP | rs587779866 |
23andMe | rs587779866 |
SNPshot | rs587779866 |
SNPdbe | rs587779866 |
MSV3d | rs587779866 |
GWAS Ctlg | rs587779866 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587779866(C;C) rs587779866(G;G) |
Alt | rs587779866(C;C) rs587779866(G;G) |
Reference | Rs587779866(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108202604A>C; NC_000011.9:g.108202604A>G |
CLNSRC | |
CLNACC | RCV000115253.8, RCV000206201.3, RCV000212074.2, RCV000484828.1, RCV000493469.1, |