rs786203492
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common/normal |
Make rs786203492(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32338832 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203492 |
dbSNP (classic) | rs786203492 |
ClinGen | rs786203492 |
ebi | rs786203492 |
HLI | rs786203492 |
Exac | rs786203492 |
Gnomad | rs786203492 |
Varsome | rs786203492 |
LitVar | rs786203492 |
Map | rs786203492 |
PheGenI | rs786203492 |
Biobank | rs786203492 |
1000 genomes | rs786203492 |
hgdp | rs786203492 |
ensembl | rs786203492 |
geneview | rs786203492 |
scholar | rs786203492 |
rs786203492 | |
pharmgkb | rs786203492 |
gwascentral | rs786203492 |
openSNP | rs786203492 |
23andMe | rs786203492 |
SNPshot | rs786203492 |
SNPdbe | rs786203492 |
MSV3d | rs786203492 |
GWAS Ctlg | rs786203492 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203492(-;-) |
Alt | rs786203492(-;-) |
Reference | Rs786203492(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32912969_32912970delGA |
CLNSRC | |
CLNACC | RCV000166816.1, RCV000241393.1, |