rs80357646

minus

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

Make rs80357646(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091629

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357646
dbSNP (classic)	rs80357646
ClinGen	rs80357646
ebi	rs80357646
HLI	rs80357646
Exac	rs80357646
Gnomad	rs80357646
Varsome	rs80357646
LitVar	rs80357646
Map	rs80357646
PheGenI	rs80357646
Biobank	rs80357646
1000 genomes	rs80357646
hgdp	rs80357646
ensembl	rs80357646
geneview	rs80357646
scholar	rs80357646
google	rs80357646
pharmgkb	rs80357646
gwascentral	rs80357646
openSNP	rs80357646
23andMe	rs80357646
SNPshot	rs80357646
SNPdbe	rs80357646
MSV3d	rs80357646
GWAS Ctlg	rs80357646

Max Magnitude

6

rs80357646, also known as 4020delAG, c.3901_3902delAG and p.Ser1301Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357646(-;-)
Alt	rs80357646(-;-)
Reference	Rs80357646(AG;AG)
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.41243646_41243647delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048373.2, RCV000077558.5,