rs786203272
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AA) | 6 | Breast cancer associated mutation |
Make rs786203272(AA;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108345801 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs786203272 |
dbSNP (classic) | rs786203272 |
ClinGen | rs786203272 |
ebi | rs786203272 |
HLI | rs786203272 |
Exac | rs786203272 |
Gnomad | rs786203272 |
Varsome | rs786203272 |
LitVar | rs786203272 |
Map | rs786203272 |
PheGenI | rs786203272 |
Biobank | rs786203272 |
1000 genomes | rs786203272 |
hgdp | rs786203272 |
ensembl | rs786203272 |
geneview | rs786203272 |
scholar | rs786203272 |
rs786203272 | |
pharmgkb | rs786203272 |
gwascentral | rs786203272 |
openSNP | rs786203272 |
23andMe | rs786203272 |
SNPshot | rs786203272 |
SNPdbe | rs786203272 |
MSV3d | rs786203272 |
GWAS Ctlg | rs786203272 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203272(AA;AA) |
Alt | rs786203272(AA;AA) |
Reference | Rs786203272(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108216527_108216528dupAA |
CLNSRC | |
CLNACC | RCV000166505.2, |