rs730881346
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730881346(G;G) |
Make rs730881346(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108257471 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881346 |
dbSNP (classic) | rs730881346 |
ClinGen | rs730881346 |
ebi | rs730881346 |
HLI | rs730881346 |
Exac | rs730881346 |
Gnomad | rs730881346 |
Varsome | rs730881346 |
LitVar | rs730881346 |
Map | rs730881346 |
PheGenI | rs730881346 |
Biobank | rs730881346 |
1000 genomes | rs730881346 |
hgdp | rs730881346 |
ensembl | rs730881346 |
geneview | rs730881346 |
scholar | rs730881346 |
rs730881346 | |
pharmgkb | rs730881346 |
gwascentral | rs730881346 |
openSNP | rs730881346 |
23andMe | rs730881346 |
SNPshot | rs730881346 |
SNPdbe | rs730881346 |
MSV3d | rs730881346 |
GWAS Ctlg | rs730881346 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881346(G;G) |
Alt | rs730881346(G;G) |
Reference | Rs730881346(T;T) |
Significance | Pathogenic |
Disease | not provided Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | not provided Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108128198T>G |
CLNSRC | |
CLNACC | RCV000159691.4, RCV000161929.4, |