rs80357147

Orientation

minus

Stabilized

minus

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

Make rs80357147(A;G)

Make rs80357147(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093376

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357147
dbSNP (classic)	rs80357147
ClinGen	rs80357147
ebi	rs80357147
HLI	rs80357147
Exac	rs80357147
Gnomad	rs80357147
Varsome	rs80357147
LitVar	rs80357147
Map	rs80357147
PheGenI	rs80357147
Biobank	rs80357147
1000 genomes	rs80357147
hgdp	rs80357147
ensembl	rs80357147
geneview	rs80357147
scholar	rs80357147
google	rs80357147
pharmgkb	rs80357147
gwascentral	rs80357147
openSNP	rs80357147
23andMe	rs80357147
SNPshot	rs80357147
SNPdbe	rs80357147
MSV3d	rs80357147
GWAS Ctlg	rs80357147

Max Magnitude

6

ClinVar
Risk	rs80357147(G;G) rs80357147(T;T)
Alt	rs80357147(G;G) rs80357147(T;T)
Reference	Rs80357147(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245393T>A; NC_000017.10:g.41245393T>C
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000047733.2, RCV000257709.2, RCV000047732.6, RCV000111777.1, RCV000131665.3, RCV000203646.3,