rs786202695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 6 | Breast cancer associated mutation |
(TGTG;TGTG) | 0 | common in clinvar |
Make rs786202695(-;-) |
Make rs786202695(-;GTGT) |
Make rs786202695(GTGT;GTGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108268491 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs786202695 |
dbSNP (classic) | rs786202695 |
ClinGen | rs786202695 |
ebi | rs786202695 |
HLI | rs786202695 |
Exac | rs786202695 |
Gnomad | rs786202695 |
Varsome | rs786202695 |
LitVar | rs786202695 |
Map | rs786202695 |
PheGenI | rs786202695 |
Biobank | rs786202695 |
1000 genomes | rs786202695 |
hgdp | rs786202695 |
ensembl | rs786202695 |
geneview | rs786202695 |
scholar | rs786202695 |
rs786202695 | |
pharmgkb | rs786202695 |
gwascentral | rs786202695 |
openSNP | rs786202695 |
23andMe | rs786202695 |
SNPshot | rs786202695 |
SNPdbe | rs786202695 |
MSV3d | rs786202695 |
GWAS Ctlg | rs786202695 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786202695(-;-) |
Alt | rs786202695(-;-) |
Reference | Rs786202695(TGTG;TGTG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108139218_108139221delGTGT |
CLNSRC | |
CLNACC | RCV000165633.2, RCV000193120.2, |