rs200976093
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Breast cancer associated mutation |
Make rs200976093(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108284411 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs200976093 |
dbSNP (classic) | rs200976093 |
ClinGen | rs200976093 |
ebi | rs200976093 |
HLI | rs200976093 |
Exac | rs200976093 |
Gnomad | rs200976093 |
Varsome | rs200976093 |
LitVar | rs200976093 |
Map | rs200976093 |
PheGenI | rs200976093 |
Biobank | rs200976093 |
1000 genomes | rs200976093 |
hgdp | rs200976093 |
ensembl | rs200976093 |
geneview | rs200976093 |
scholar | rs200976093 |
rs200976093 | |
pharmgkb | rs200976093 |
gwascentral | rs200976093 |
openSNP | rs200976093 |
23andMe | rs200976093 |
SNPshot | rs200976093 |
SNPdbe | rs200976093 |
MSV3d | rs200976093 |
GWAS Ctlg | rs200976093 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs200976093(T;T) |
Alt | rs200976093(T;T) |
Reference | Rs200976093(C;C) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108155138C>T |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000115183.2, RCV000492834.1, |