rs80357818

minus

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

Make rs80357818(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43051074

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357818
dbSNP (classic)	rs80357818
ClinGen	rs80357818
ebi	rs80357818
HLI	rs80357818
Exac	rs80357818
Gnomad	rs80357818
Varsome	rs80357818
LitVar	rs80357818
Map	rs80357818
PheGenI	rs80357818
Biobank	rs80357818
1000 genomes	rs80357818
hgdp	rs80357818
ensembl	rs80357818
geneview	rs80357818
scholar	rs80357818
google	rs80357818
pharmgkb	rs80357818
gwascentral	rs80357818
openSNP	rs80357818
23andMe	rs80357818
SNPshot	rs80357818
SNPdbe	rs80357818
MSV3d	rs80357818
GWAS Ctlg	rs80357818

Max Magnitude

6

rs80357818, also known as c.5320_5321delAA, 5439delAA, and p.Asn1774Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357818(-;-)
Alt	rs80357818(-;-)
Reference	Rs80357818(AA;AA)
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.41203091_41203092delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048928.2, RCV000112611.3,