rs80359013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80359013(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32362595 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359013 |
dbSNP (classic) | rs80359013 |
ClinGen | rs80359013 |
ebi | rs80359013 |
HLI | rs80359013 |
Exac | rs80359013 |
Gnomad | rs80359013 |
Varsome | rs80359013 |
LitVar | rs80359013 |
Map | rs80359013 |
PheGenI | rs80359013 |
Biobank | rs80359013 |
1000 genomes | rs80359013 |
hgdp | rs80359013 |
ensembl | rs80359013 |
geneview | rs80359013 |
scholar | rs80359013 |
rs80359013 | |
pharmgkb | rs80359013 |
gwascentral | rs80359013 |
openSNP | rs80359013 |
23andMe | rs80359013 |
SNPshot | rs80359013 |
SNPdbe | rs80359013 |
MSV3d | rs80359013 |
GWAS Ctlg | rs80359013 |
Max Magnitude | 6 |
aka c.7878G>C (p.Trp2626Cys) and also c.7878G>A (p.Trp2626Ter), both pathogenic for breast cancer
23andMe name for c.7878G>C: i5009321
ClinVar | |
---|---|
Risk | rs80359013(A;A) rs80359013(C;C) |
Alt | rs80359013(A;A) rs80359013(C;C) |
Reference | Rs80359013(G;G) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32936732G>A; NC_000013.10:g.32936732G>C |
CLNSRC | ClinVar |
CLNACC | RCV000031706.7, RCV000045335.3, RCV000217125.1, RCV000237084.1, RCV000031707.7, RCV000045336.4, RCV000163025.2, RCV000482471.1, |