rs878853538
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853538(-;-) |
Make rs878853538(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108329022 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs878853538 |
dbSNP (classic) | rs878853538 |
ClinGen | rs878853538 |
ebi | rs878853538 |
HLI | rs878853538 |
Exac | rs878853538 |
Gnomad | rs878853538 |
Varsome | rs878853538 |
LitVar | rs878853538 |
Map | rs878853538 |
PheGenI | rs878853538 |
Biobank | rs878853538 |
1000 genomes | rs878853538 |
hgdp | rs878853538 |
ensembl | rs878853538 |
geneview | rs878853538 |
scholar | rs878853538 |
rs878853538 | |
pharmgkb | rs878853538 |
gwascentral | rs878853538 |
openSNP | rs878853538 |
23andMe | rs878853538 |
SNPshot | rs878853538 |
SNPdbe | rs878853538 |
MSV3d | rs878853538 |
GWAS Ctlg | rs878853538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853538(-;-) |
Alt | rs878853538(-;-) |
Reference | Rs878853538(C;C) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108199749delC |
CLNSRC | |
CLNACC | RCV000229302.1, |