rs753011366
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CT) | 6 | Breast cancer associated mutation |
Make rs753011366(CT;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108294992 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs753011366 |
dbSNP (classic) | rs753011366 |
ClinGen | rs753011366 |
ebi | rs753011366 |
HLI | rs753011366 |
Exac | rs753011366 |
Gnomad | rs753011366 |
Varsome | rs753011366 |
LitVar | rs753011366 |
Map | rs753011366 |
PheGenI | rs753011366 |
Biobank | rs753011366 |
1000 genomes | rs753011366 |
hgdp | rs753011366 |
ensembl | rs753011366 |
geneview | rs753011366 |
scholar | rs753011366 |
rs753011366 | |
pharmgkb | rs753011366 |
gwascentral | rs753011366 |
openSNP | rs753011366 |
23andMe | rs753011366 |
SNPshot | rs753011366 |
SNPdbe | rs753011366 |
MSV3d | rs753011366 |
GWAS Ctlg | rs753011366 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs753011366(CT;CT) |
Alt | rs753011366(CT;CT) |
Reference | Rs753011366(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108165719_108165720insCT |
CLNSRC | |
CLNACC | RCV000218872.1, |