rs869320781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs869320781(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32332807 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs869320781 |
dbSNP (classic) | rs869320781 |
ClinGen | rs869320781 |
ebi | rs869320781 |
HLI | rs869320781 |
Exac | rs869320781 |
Gnomad | rs869320781 |
Varsome | rs869320781 |
LitVar | rs869320781 |
Map | rs869320781 |
PheGenI | rs869320781 |
Biobank | rs869320781 |
1000 genomes | rs869320781 |
hgdp | rs869320781 |
ensembl | rs869320781 |
geneview | rs869320781 |
scholar | rs869320781 |
rs869320781 | |
pharmgkb | rs869320781 |
gwascentral | rs869320781 |
openSNP | rs869320781 |
23andMe | rs869320781 |
SNPshot | rs869320781 |
SNPdbe | rs869320781 |
MSV3d | rs869320781 |
GWAS Ctlg | rs869320781 |
Max Magnitude | 6 |
aka c.1329delG (p.Asn444fs)
ClinVar | |
---|---|
Risk | rs869320781(-;-) |
Alt | rs869320781(-;-) |
Reference | Rs869320781(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32906944delG |
CLNSRC | |
CLNACC | RCV000211012.1, |