rs879255311
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs879255311(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32337777 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs879255311 |
dbSNP (classic) | rs879255311 |
ClinGen | rs879255311 |
ebi | rs879255311 |
HLI | rs879255311 |
Exac | rs879255311 |
Gnomad | rs879255311 |
Varsome | rs879255311 |
LitVar | rs879255311 |
Map | rs879255311 |
PheGenI | rs879255311 |
Biobank | rs879255311 |
1000 genomes | rs879255311 |
hgdp | rs879255311 |
ensembl | rs879255311 |
geneview | rs879255311 |
scholar | rs879255311 |
rs879255311 | |
pharmgkb | rs879255311 |
gwascentral | rs879255311 |
openSNP | rs879255311 |
23andMe | rs879255311 |
SNPshot | rs879255311 |
SNPdbe | rs879255311 |
MSV3d | rs879255311 |
GWAS Ctlg | rs879255311 |
Max Magnitude | 6 |
aka c.3422delC (p.Thr1141Asnfs)
23andMe name: i703316
ClinVar | |
---|---|
Risk | rs879255311(-;-) |
Alt | rs879255311(-;-) |
Reference | Rs879255311(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32911914delC |
CLNSRC | |
CLNACC | RCV000239116.2, |