rs730881369
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs730881369(C;G) |
Make rs730881369(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108289761 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881369 |
dbSNP (classic) | rs730881369 |
ClinGen | rs730881369 |
ebi | rs730881369 |
HLI | rs730881369 |
Exac | rs730881369 |
Gnomad | rs730881369 |
Varsome | rs730881369 |
LitVar | rs730881369 |
Map | rs730881369 |
PheGenI | rs730881369 |
Biobank | rs730881369 |
1000 genomes | rs730881369 |
hgdp | rs730881369 |
ensembl | rs730881369 |
geneview | rs730881369 |
scholar | rs730881369 |
rs730881369 | |
pharmgkb | rs730881369 |
gwascentral | rs730881369 |
openSNP | rs730881369 |
23andMe | rs730881369 |
SNPshot | rs730881369 |
SNPdbe | rs730881369 |
MSV3d | rs730881369 |
GWAS Ctlg | rs730881369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881369(G;G) rs730881369(T;T) |
Alt | rs730881369(G;G) rs730881369(T;T) |
Reference | Rs730881369(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.108160488C>G; NC_000011.9:g.108160488C>T |
CLNSRC | |
CLNACC | RCV000159723.4, RCV000197917.2, RCV000212014.1, RCV000227538.1, RCV000445657.1, |