rs749036865
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749036865(C;T) |
Make rs749036865(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108250834 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs749036865 |
dbSNP (classic) | rs749036865 |
ClinGen | rs749036865 |
ebi | rs749036865 |
HLI | rs749036865 |
Exac | rs749036865 |
Gnomad | rs749036865 |
Varsome | rs749036865 |
LitVar | rs749036865 |
Map | rs749036865 |
PheGenI | rs749036865 |
Biobank | rs749036865 |
1000 genomes | rs749036865 |
hgdp | rs749036865 |
ensembl | rs749036865 |
geneview | rs749036865 |
scholar | rs749036865 |
rs749036865 | |
pharmgkb | rs749036865 |
gwascentral | rs749036865 |
openSNP | rs749036865 |
23andMe | rs749036865 |
SNPshot | rs749036865 |
SNPdbe | rs749036865 |
MSV3d | rs749036865 |
GWAS Ctlg | rs749036865 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749036865(G;G) rs749036865(T;T) |
Alt | rs749036865(G;G) rs749036865(T;T) |
Reference | Rs749036865(C;C) |
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.108121561C>G; NC_000011.9:g.108121561C>T |
CLNSRC | |
CLNACC | RCV000229490.1, RCV000205849.2, RCV000493633.1, |