rs80357168

Orientation

minus

Stabilized

minus

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

Make rs80357168(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092511

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357168
dbSNP (classic)	rs80357168
ClinGen	rs80357168
ebi	rs80357168
HLI	rs80357168
Exac	rs80357168
Gnomad	rs80357168
Varsome	rs80357168
LitVar	rs80357168
Map	rs80357168
PheGenI	rs80357168
Biobank	rs80357168
1000 genomes	rs80357168
hgdp	rs80357168
ensembl	rs80357168
geneview	rs80357168
scholar	rs80357168
google	rs80357168
pharmgkb	rs80357168
gwascentral	rs80357168
openSNP	rs80357168
23andMe	rs80357168
SNPshot	rs80357168
SNPdbe	rs80357168
MSV3d	rs80357168
GWAS Ctlg	rs80357168

Max Magnitude

6

rs80357168, also known as S1007X, c.3020C>G and p.Ser1007Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357168(G;G)
Alt	rs80357168(G;G)
Reference	Rs80357168(C;C)
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.41244528G>C
CLNSRC	ClinVar
CLNACC	RCV000048049.2, RCV000111983.3,