rs557012154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs557012154(C;T) |
Make rs557012154(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108244927 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs557012154 |
dbSNP (classic) | rs557012154 |
ClinGen | rs557012154 |
ebi | rs557012154 |
HLI | rs557012154 |
Exac | rs557012154 |
Gnomad | rs557012154 |
Varsome | rs557012154 |
LitVar | rs557012154 |
Map | rs557012154 |
PheGenI | rs557012154 |
Biobank | rs557012154 |
1000 genomes | rs557012154 |
hgdp | rs557012154 |
ensembl | rs557012154 |
geneview | rs557012154 |
scholar | rs557012154 |
rs557012154 | |
pharmgkb | rs557012154 |
gwascentral | rs557012154 |
openSNP | rs557012154 |
23andMe | rs557012154 |
SNPshot | rs557012154 |
SNPdbe | rs557012154 |
MSV3d | rs557012154 |
GWAS Ctlg | rs557012154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs557012154(T;T) |
Alt | rs557012154(T;T) |
Reference | Rs557012154(C;C) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108115654C>T |
CLNSRC | |
CLNACC | RCV000169336.1, RCV000222842.1, |