rs864622389
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | Breast cancer associated mutation |
(T;T) | 0 | common in clinvar |
Make rs864622389(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108244949 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs864622389 |
dbSNP (classic) | rs864622389 |
ClinGen | rs864622389 |
ebi | rs864622389 |
HLI | rs864622389 |
Exac | rs864622389 |
Gnomad | rs864622389 |
Varsome | rs864622389 |
LitVar | rs864622389 |
Map | rs864622389 |
PheGenI | rs864622389 |
Biobank | rs864622389 |
1000 genomes | rs864622389 |
hgdp | rs864622389 |
ensembl | rs864622389 |
geneview | rs864622389 |
scholar | rs864622389 |
rs864622389 | |
pharmgkb | rs864622389 |
gwascentral | rs864622389 |
openSNP | rs864622389 |
23andMe | rs864622389 |
SNPshot | rs864622389 |
SNPdbe | rs864622389 |
MSV3d | rs864622389 |
GWAS Ctlg | rs864622389 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864622389(-;-) |
Alt | rs864622389(-;-) |
Reference | Rs864622389(T;T) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108115676delT |
CLNSRC | |
CLNACC | RCV000205636.2, RCV000221322.2, |