rs80356896

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80356896(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063946

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356896
dbSNP (classic)	rs80356896
ClinGen	rs80356896
ebi	rs80356896
HLI	rs80356896
Exac	rs80356896
Gnomad	rs80356896
Varsome	rs80356896
LitVar	rs80356896
Map	rs80356896
PheGenI	rs80356896
Biobank	rs80356896
1000 genomes	rs80356896
hgdp	rs80356896
ensembl	rs80356896
geneview	rs80356896
scholar	rs80356896
google	rs80356896
pharmgkb	rs80356896
gwascentral	rs80356896
openSNP	rs80356896
23andMe	rs80356896
SNPshot	rs80356896
SNPdbe	rs80356896
MSV3d	rs80356896
GWAS Ctlg	rs80356896

Max Magnitude

6

rs80356896, also known as E1694X, c.5080G>T and p.Glu1694Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010086

ClinVar
Risk	rs80356896(T;T)
Alt	rs80356896(T;T)
Reference	Rs80356896(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41215963C>A
CLNSRC	ClinVar
CLNACC	RCV000048780.4, RCV000077593.5, RCV000255531.1,