rs80358041

Orientation

minus

Stabilized

minus

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

Make rs80358041(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43051062

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358041
dbSNP (classic)	rs80358041
ClinGen	rs80358041
ebi	rs80358041
HLI	rs80358041
Exac	rs80358041
Gnomad	rs80358041
Varsome	rs80358041
LitVar	rs80358041
Map	rs80358041
PheGenI	rs80358041
Biobank	rs80358041
1000 genomes	rs80358041
hgdp	rs80358041
ensembl	rs80358041
geneview	rs80358041
scholar	rs80358041
google	rs80358041
pharmgkb	rs80358041
gwascentral	rs80358041
openSNP	rs80358041
23andMe	rs80358041
SNPshot	rs80358041
SNPdbe	rs80358041
MSV3d	rs80358041
GWAS Ctlg	rs80358041

Max Magnitude

6

ClinVar
Risk	rs80358041(A;A) rs80358041(C;C) rs80358041(T;T)
Alt	rs80358041(A;A) rs80358041(C;C) rs80358041(T;T)
Reference	Rs80358041(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41203079C>A; NC_000017.10:g.41203079C>G; NC_000017.10:g.41203079C>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000258497.1, RCV000048934.2, RCV000235344.1, RCV000048933.3, RCV000112615.3,