rs80357694

minus

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

Make rs80357694(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049186

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357694
dbSNP (classic)	rs80357694
ClinGen	rs80357694
ebi	rs80357694
HLI	rs80357694
Exac	rs80357694
Gnomad	rs80357694
Varsome	rs80357694
LitVar	rs80357694
Map	rs80357694
PheGenI	rs80357694
Biobank	rs80357694
1000 genomes	rs80357694
hgdp	rs80357694
ensembl	rs80357694
geneview	rs80357694
scholar	rs80357694
google	rs80357694
pharmgkb	rs80357694
gwascentral	rs80357694
openSNP	rs80357694
23andMe	rs80357694
SNPshot	rs80357694
SNPdbe	rs80357694
MSV3d	rs80357694
GWAS Ctlg	rs80357694

Max Magnitude

6

rs80357694, also known as 5460delG, c.5341_5341delG and p.Glu1781Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357694(-;-)
Alt	rs80357694(-;-)
Reference	Rs80357694(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41201203delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048950.2, RCV000112625.3,