rs376170600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6 | Breast cancer associated mutation |
Make rs376170600(C;T) |
Make rs376170600(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108248977 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs376170600 |
dbSNP (classic) | rs376170600 |
ClinGen | rs376170600 |
ebi | rs376170600 |
HLI | rs376170600 |
Exac | rs376170600 |
Gnomad | rs376170600 |
Varsome | rs376170600 |
LitVar | rs376170600 |
Map | rs376170600 |
PheGenI | rs376170600 |
Biobank | rs376170600 |
1000 genomes | rs376170600 |
hgdp | rs376170600 |
ensembl | rs376170600 |
geneview | rs376170600 |
scholar | rs376170600 |
rs376170600 | |
pharmgkb | rs376170600 |
gwascentral | rs376170600 |
openSNP | rs376170600 |
23andMe | rs376170600 |
SNPshot | rs376170600 |
SNPdbe | rs376170600 |
MSV3d | rs376170600 |
GWAS Ctlg | rs376170600 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs376170600(G;G) rs376170600(T;T) |
Alt | rs376170600(G;G) rs376170600(T;T) |
Reference | Rs376170600(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108119704C>G; NC_000011.9:g.108119704C>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000131436.3, RCV000228285.1, RCV000236856.1, RCV000166267.1, |