rs774925473
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs774925473(A;G) |
Make rs774925473(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108309110 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs774925473 |
dbSNP (classic) | rs774925473 |
ClinGen | rs774925473 |
ebi | rs774925473 |
HLI | rs774925473 |
Exac | rs774925473 |
Gnomad | rs774925473 |
Varsome | rs774925473 |
LitVar | rs774925473 |
Map | rs774925473 |
PheGenI | rs774925473 |
Biobank | rs774925473 |
1000 genomes | rs774925473 |
hgdp | rs774925473 |
ensembl | rs774925473 |
geneview | rs774925473 |
scholar | rs774925473 |
rs774925473 | |
pharmgkb | rs774925473 |
gwascentral | rs774925473 |
openSNP | rs774925473 |
23andMe | rs774925473 |
SNPshot | rs774925473 |
SNPdbe | rs774925473 |
MSV3d | rs774925473 |
GWAS Ctlg | rs774925473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774925473(G;G) |
Alt | rs774925473(G;G) |
Reference | Rs774925473(A;A) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108179837A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003157.4, RCV000229886.2, RCV000494077.1, |