rs864622129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
Make rs864622129(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108272853 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs864622129 |
dbSNP (classic) | rs864622129 |
ClinGen | rs864622129 |
ebi | rs864622129 |
HLI | rs864622129 |
Exac | rs864622129 |
Gnomad | rs864622129 |
Varsome | rs864622129 |
LitVar | rs864622129 |
Map | rs864622129 |
PheGenI | rs864622129 |
Biobank | rs864622129 |
1000 genomes | rs864622129 |
hgdp | rs864622129 |
ensembl | rs864622129 |
geneview | rs864622129 |
scholar | rs864622129 |
rs864622129 | |
pharmgkb | rs864622129 |
gwascentral | rs864622129 |
openSNP | rs864622129 |
23andMe | rs864622129 |
SNPshot | rs864622129 |
SNPdbe | rs864622129 |
MSV3d | rs864622129 |
GWAS Ctlg | rs864622129 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864622129(A;A) rs864622129(C;C) |
Alt | rs864622129(A;A) rs864622129(C;C) |
Reference | Rs864622129(G;G) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108143580G>A; NC_000011.9:g.108143580G>C |
CLNSRC | |
CLNACC | RCV000206819.1, RCV000220530.1, RCV000235974.1, RCV000459518.1, |