rs80357683

minus

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

Make rs80357683(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094212

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357683
dbSNP (classic)	rs80357683
ClinGen	rs80357683
ebi	rs80357683
HLI	rs80357683
Exac	rs80357683
Gnomad	rs80357683
Varsome	rs80357683
LitVar	rs80357683
Map	rs80357683
PheGenI	rs80357683
Biobank	rs80357683
1000 genomes	rs80357683
hgdp	rs80357683
ensembl	rs80357683
geneview	rs80357683
scholar	rs80357683
google	rs80357683
pharmgkb	rs80357683
gwascentral	rs80357683
openSNP	rs80357683
23andMe	rs80357683
SNPshot	rs80357683
SNPdbe	rs80357683
MSV3d	rs80357683
GWAS Ctlg	rs80357683

Max Magnitude

6

rs80357683, also known as c.787+530dup, 1438delT, c.1319_1319delT and p.Leu440Terfs, all of which represent variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357683(-;-)
Alt	rs80357683(-;-)
Reference	Rs80357683(T;T)
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.41246229delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047415.2, RCV000111588.3,