rs786204279
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs786204279(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32341132 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204279 |
dbSNP (classic) | rs786204279 |
ClinGen | rs786204279 |
ebi | rs786204279 |
HLI | rs786204279 |
Exac | rs786204279 |
Gnomad | rs786204279 |
Varsome | rs786204279 |
LitVar | rs786204279 |
Map | rs786204279 |
PheGenI | rs786204279 |
Biobank | rs786204279 |
1000 genomes | rs786204279 |
hgdp | rs786204279 |
ensembl | rs786204279 |
geneview | rs786204279 |
scholar | rs786204279 |
rs786204279 | |
pharmgkb | rs786204279 |
gwascentral | rs786204279 |
openSNP | rs786204279 |
23andMe | rs786204279 |
SNPshot | rs786204279 |
SNPdbe | rs786204279 |
MSV3d | rs786204279 |
GWAS Ctlg | rs786204279 |
Max Magnitude | 6 |
aka c.6777_6778delTG
ClinVar | |
---|---|
Risk | rs786204279(-;-) |
Alt | rs786204279(-;-) |
Reference | Rs786204279(TG;TG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32915269_32915270delTG |
CLNSRC | |
CLNACC | RCV000168591.3, RCV000257919.2, |