rs769142993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
Make rs769142993(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108331498 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs769142993 |
dbSNP (classic) | rs769142993 |
ClinGen | rs769142993 |
ebi | rs769142993 |
HLI | rs769142993 |
Exac | rs769142993 |
Gnomad | rs769142993 |
Varsome | rs769142993 |
LitVar | rs769142993 |
Map | rs769142993 |
PheGenI | rs769142993 |
Biobank | rs769142993 |
1000 genomes | rs769142993 |
hgdp | rs769142993 |
ensembl | rs769142993 |
geneview | rs769142993 |
scholar | rs769142993 |
rs769142993 | |
pharmgkb | rs769142993 |
gwascentral | rs769142993 |
openSNP | rs769142993 |
23andMe | rs769142993 |
SNPshot | rs769142993 |
SNPdbe | rs769142993 |
MSV3d | rs769142993 |
GWAS Ctlg | rs769142993 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs769142993(C;C) |
Alt | rs769142993(C;C) |
Reference | Rs769142993(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108202225G>C |
CLNSRC | |
CLNACC | RCV000167357.1, |