rs80357791

minus

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

Make rs80357791(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43057088

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357791
dbSNP (classic)	rs80357791
ClinGen	rs80357791
ebi	rs80357791
HLI	rs80357791
Exac	rs80357791
Gnomad	rs80357791
Varsome	rs80357791
LitVar	rs80357791
Map	rs80357791
PheGenI	rs80357791
Biobank	rs80357791
1000 genomes	rs80357791
hgdp	rs80357791
ensembl	rs80357791
geneview	rs80357791
scholar	rs80357791
google	rs80357791
pharmgkb	rs80357791
gwascentral	rs80357791
openSNP	rs80357791
23andMe	rs80357791
SNPshot	rs80357791
SNPdbe	rs80357791
MSV3d	rs80357791
GWAS Ctlg	rs80357791

Max Magnitude

6

rs80357791, also known as 5360delA, c.5241_5241delA and p.Gln1747=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357791(-;-)
Alt	rs80357791(-;-)
Reference	Rs80357791(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.41209105delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112576.2,