rs80357043

Orientation

minus

Stabilized

minus

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

Make rs80357043(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067628

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357043
dbSNP (classic)	rs80357043
ClinGen	rs80357043
ebi	rs80357043
HLI	rs80357043
Exac	rs80357043
Gnomad	rs80357043
Varsome	rs80357043
LitVar	rs80357043
Map	rs80357043
PheGenI	rs80357043
Biobank	rs80357043
1000 genomes	rs80357043
hgdp	rs80357043
ensembl	rs80357043
geneview	rs80357043
scholar	rs80357043
google	rs80357043
pharmgkb	rs80357043
gwascentral	rs80357043
openSNP	rs80357043
23andMe	rs80357043
SNPshot	rs80357043
SNPdbe	rs80357043
MSV3d	rs80357043
GWAS Ctlg	rs80357043

Max Magnitude

6

ClinVar
Risk	rs80357043(T;T)
Alt	rs80357043(T;T)
Reference	Rs80357043(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.41219645G>A
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000048750.2, RCV000112476.2,