rs876659489
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6 | Breast cancer associated mutation |
(A;G) | 6 | Breast cancer associated mutation |
Make rs876659489(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108310158 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs876659489 |
dbSNP (classic) | rs876659489 |
ClinGen | rs876659489 |
ebi | rs876659489 |
HLI | rs876659489 |
Exac | rs876659489 |
Gnomad | rs876659489 |
Varsome | rs876659489 |
LitVar | rs876659489 |
Map | rs876659489 |
PheGenI | rs876659489 |
Biobank | rs876659489 |
1000 genomes | rs876659489 |
hgdp | rs876659489 |
ensembl | rs876659489 |
geneview | rs876659489 |
scholar | rs876659489 |
rs876659489 | |
pharmgkb | rs876659489 |
gwascentral | rs876659489 |
openSNP | rs876659489 |
23andMe | rs876659489 |
SNPshot | rs876659489 |
SNPdbe | rs876659489 |
MSV3d | rs876659489 |
GWAS Ctlg | rs876659489 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs876659489(C;C) rs876659489(T;T) |
Alt | rs876659489(C;C) rs876659489(T;T) |
Reference | Rs876659489(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108180885A>C; NC_000011.9:g.108180885A>T |
CLNSRC | |
CLNACC | RCV000216373.1, RCV000410861.1, |