rs80358810

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	BRCA2 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs80358810(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32326564

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358810
dbSNP (classic)	rs80358810
ClinGen	rs80358810
ebi	rs80358810
HLI	rs80358810
Exac	rs80358810
Gnomad	rs80358810
Varsome	rs80358810
LitVar	rs80358810
Map	rs80358810
PheGenI	rs80358810
Biobank	rs80358810
1000 genomes	rs80358810
hgdp	rs80358810
ensembl	rs80358810
geneview	rs80358810
scholar	rs80358810
google	rs80358810
pharmgkb	rs80358810
gwascentral	rs80358810
openSNP	rs80358810
23andMe	rs80358810
SNPshot	rs80358810
SNPdbe	rs80358810
MSV3d	rs80358810
GWAS Ctlg	rs80358810

Max Magnitude

6

rs80358810, also known as W194X, c.582G>A and p.Trp194Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358810(A;A)
Alt	rs80358810(A;A)
Reference	Rs80358810(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32900701G>A
CLNSRC	ClinVar
CLNACC	RCV000031581.6, RCV000044768.2,