rs762083530
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Breast cancer associated mutation |
Make rs762083530(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108295002 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs762083530 |
dbSNP (classic) | rs762083530 |
ClinGen | rs762083530 |
ebi | rs762083530 |
HLI | rs762083530 |
Exac | rs762083530 |
Gnomad | rs762083530 |
Varsome | rs762083530 |
LitVar | rs762083530 |
Map | rs762083530 |
PheGenI | rs762083530 |
Biobank | rs762083530 |
1000 genomes | rs762083530 |
hgdp | rs762083530 |
ensembl | rs762083530 |
geneview | rs762083530 |
scholar | rs762083530 |
rs762083530 | |
pharmgkb | rs762083530 |
gwascentral | rs762083530 |
openSNP | rs762083530 |
23andMe | rs762083530 |
SNPshot | rs762083530 |
SNPdbe | rs762083530 |
MSV3d | rs762083530 |
GWAS Ctlg | rs762083530 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs762083530(T;T) |
Alt | rs762083530(T;T) |
Reference | Rs762083530(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108165729C>T |
CLNSRC | |
CLNACC | RCV000166912.2, RCV000483137.1, |