rs772228129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs772228129(C;G) |
Make rs772228129(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108331491 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs772228129 |
dbSNP (classic) | rs772228129 |
ClinGen | rs772228129 |
ebi | rs772228129 |
HLI | rs772228129 |
Exac | rs772228129 |
Gnomad | rs772228129 |
Varsome | rs772228129 |
LitVar | rs772228129 |
Map | rs772228129 |
PheGenI | rs772228129 |
Biobank | rs772228129 |
1000 genomes | rs772228129 |
hgdp | rs772228129 |
ensembl | rs772228129 |
geneview | rs772228129 |
scholar | rs772228129 |
rs772228129 | |
pharmgkb | rs772228129 |
gwascentral | rs772228129 |
openSNP | rs772228129 |
23andMe | rs772228129 |
SNPshot | rs772228129 |
SNPdbe | rs772228129 |
MSV3d | rs772228129 |
GWAS Ctlg | rs772228129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772228129(G;G) rs772228129(T;T) |
Alt | rs772228129(G;G) rs772228129(T;T) |
Reference | Rs772228129(C;C) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108202218C>G |
CLNSRC | |
CLNACC | RCV000230138.1, |