rs730881309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Breast cancer associated mutation |
Make rs730881309(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108289010 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881309 |
dbSNP (classic) | rs730881309 |
ClinGen | rs730881309 |
ebi | rs730881309 |
HLI | rs730881309 |
Exac | rs730881309 |
Gnomad | rs730881309 |
Varsome | rs730881309 |
LitVar | rs730881309 |
Map | rs730881309 |
PheGenI | rs730881309 |
Biobank | rs730881309 |
1000 genomes | rs730881309 |
hgdp | rs730881309 |
ensembl | rs730881309 |
geneview | rs730881309 |
scholar | rs730881309 |
rs730881309 | |
pharmgkb | rs730881309 |
gwascentral | rs730881309 |
openSNP | rs730881309 |
23andMe | rs730881309 |
SNPshot | rs730881309 |
SNPdbe | rs730881309 |
MSV3d | rs730881309 |
GWAS Ctlg | rs730881309 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881309(T;T) |
Alt | rs730881309(T;T) |
Reference | Rs730881309(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108159737dupT |
CLNSRC | |
CLNACC | RCV000159639.5, RCV000235103.1, RCV000474345.1, |