rs748634900
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748634900(A;A) |
Make rs748634900(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108343246 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs748634900 |
dbSNP (classic) | rs748634900 |
ClinGen | rs748634900 |
ebi | rs748634900 |
HLI | rs748634900 |
Exac | rs748634900 |
Gnomad | rs748634900 |
Varsome | rs748634900 |
LitVar | rs748634900 |
Map | rs748634900 |
PheGenI | rs748634900 |
Biobank | rs748634900 |
1000 genomes | rs748634900 |
hgdp | rs748634900 |
ensembl | rs748634900 |
geneview | rs748634900 |
scholar | rs748634900 |
rs748634900 | |
pharmgkb | rs748634900 |
gwascentral | rs748634900 |
openSNP | rs748634900 |
23andMe | rs748634900 |
SNPshot | rs748634900 |
SNPdbe | rs748634900 |
MSV3d | rs748634900 |
GWAS Ctlg | rs748634900 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748634900(A;A) |
Alt | rs748634900(A;A) |
Reference | Rs748634900(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108213973G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000165932.3, RCV000200060.1, |