rs80357939

minus

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

Make rs80357939(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094175

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357939
dbSNP (classic)	rs80357939
ClinGen	rs80357939
ebi	rs80357939
HLI	rs80357939
Exac	rs80357939
Gnomad	rs80357939
Varsome	rs80357939
LitVar	rs80357939
Map	rs80357939
PheGenI	rs80357939
Biobank	rs80357939
1000 genomes	rs80357939
hgdp	rs80357939
ensembl	rs80357939
geneview	rs80357939
scholar	rs80357939
google	rs80357939
pharmgkb	rs80357939
gwascentral	rs80357939
openSNP	rs80357939
23andMe	rs80357939
SNPshot	rs80357939
SNPdbe	rs80357939
MSV3d	rs80357939
GWAS Ctlg	rs80357939

Max Magnitude

6

rs80357939, also known as 1475delA, c.1356_1356delA and p.Val452=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357939(-;-)
Alt	rs80357939(-;-)
Reference	Rs80357939(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246192delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111595.3,