rs80358871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80358871(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32326613 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358871 |
dbSNP (classic) | rs80358871 |
ClinGen | rs80358871 |
ebi | rs80358871 |
HLI | rs80358871 |
Exac | rs80358871 |
Gnomad | rs80358871 |
Varsome | rs80358871 |
LitVar | rs80358871 |
Map | rs80358871 |
PheGenI | rs80358871 |
Biobank | rs80358871 |
1000 genomes | rs80358871 |
hgdp | rs80358871 |
ensembl | rs80358871 |
geneview | rs80358871 |
scholar | rs80358871 |
rs80358871 | |
pharmgkb | rs80358871 |
gwascentral | rs80358871 |
openSNP | rs80358871 |
23andMe | rs80358871 |
SNPshot | rs80358871 |
SNPdbe | rs80358871 |
MSV3d | rs80358871 |
GWAS Ctlg | rs80358871 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358871(A;A) rs80358871(C;C) |
Alt | rs80358871(A;A) rs80358871(C;C) |
Reference | Rs80358871(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32900750G>A; NC_000013.10:g.32900750G>C |
CLNSRC | ClinVar |
CLNACC | RCV000044902.2, RCV000113917.1, RCV000213157.1, RCV000214066.1, RCV000031617.4, RCV000044903.2, RCV000438397.1, |