rs864622662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
Make rs864622662(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108299723 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs864622662 |
dbSNP (classic) | rs864622662 |
ClinGen | rs864622662 |
ebi | rs864622662 |
HLI | rs864622662 |
Exac | rs864622662 |
Gnomad | rs864622662 |
Varsome | rs864622662 |
LitVar | rs864622662 |
Map | rs864622662 |
PheGenI | rs864622662 |
Biobank | rs864622662 |
1000 genomes | rs864622662 |
hgdp | rs864622662 |
ensembl | rs864622662 |
geneview | rs864622662 |
scholar | rs864622662 |
rs864622662 | |
pharmgkb | rs864622662 |
gwascentral | rs864622662 |
openSNP | rs864622662 |
23andMe | rs864622662 |
SNPshot | rs864622662 |
SNPdbe | rs864622662 |
MSV3d | rs864622662 |
GWAS Ctlg | rs864622662 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864622662(-;-) |
Alt | rs864622662(-;-) |
Reference | Rs864622662(G;G) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108170450delG |
CLNSRC | |
CLNACC | RCV000205871.2, |