rs1060501713
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060501713(C;C) |
Make rs1060501713(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108343373 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501713 |
dbSNP (classic) | rs1060501713 |
ClinGen | rs1060501713 |
ebi | rs1060501713 |
HLI | rs1060501713 |
Exac | rs1060501713 |
Gnomad | rs1060501713 |
Varsome | rs1060501713 |
LitVar | rs1060501713 |
Map | rs1060501713 |
PheGenI | rs1060501713 |
Biobank | rs1060501713 |
1000 genomes | rs1060501713 |
hgdp | rs1060501713 |
ensembl | rs1060501713 |
geneview | rs1060501713 |
scholar | rs1060501713 |
rs1060501713 | |
pharmgkb | rs1060501713 |
gwascentral | rs1060501713 |
openSNP | rs1060501713 |
23andMe | rs1060501713 |
SNPshot | rs1060501713 |
SNPdbe | rs1060501713 |
MSV3d | rs1060501713 |
GWAS Ctlg | rs1060501713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501713(C;C) |
Alt | rs1060501713(C;C) |
Reference | Rs1060501713(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108214100T>C |
CLNSRC | |
CLNACC | RCV000462857.1, RCV000494154.1, |