rs1057517452
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057517452(-;-) |
Make rs1057517452(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108293396 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs1057517452 |
dbSNP (classic) | rs1057517452 |
ClinGen | rs1057517452 |
ebi | rs1057517452 |
HLI | rs1057517452 |
Exac | rs1057517452 |
Gnomad | rs1057517452 |
Varsome | rs1057517452 |
LitVar | rs1057517452 |
Map | rs1057517452 |
PheGenI | rs1057517452 |
Biobank | rs1057517452 |
1000 genomes | rs1057517452 |
hgdp | rs1057517452 |
ensembl | rs1057517452 |
geneview | rs1057517452 |
scholar | rs1057517452 |
rs1057517452 | |
pharmgkb | rs1057517452 |
gwascentral | rs1057517452 |
openSNP | rs1057517452 |
23andMe | rs1057517452 |
SNPshot | rs1057517452 |
SNPdbe | rs1057517452 |
MSV3d | rs1057517452 |
GWAS Ctlg | rs1057517452 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517452(-;-) |
Alt | rs1057517452(-;-) |
Reference | Rs1057517452(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108164123delT |
CLNSRC | |
CLNACC | RCV000411883.1, |