rs80358094

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
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80358094(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063873

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358094
dbSNP (classic)	rs80358094
ClinGen	rs80358094
ebi	rs80358094
HLI	rs80358094
Exac	rs80358094
Gnomad	rs80358094
Varsome	rs80358094
LitVar	rs80358094
Map	rs80358094
PheGenI	rs80358094
Biobank	rs80358094
1000 genomes	rs80358094
hgdp	rs80358094
ensembl	rs80358094
geneview	rs80358094
scholar	rs80358094
google	rs80358094
pharmgkb	rs80358094
gwascentral	rs80358094
openSNP	rs80358094
23andMe	rs80358094
SNPshot	rs80358094
SNPdbe	rs80358094
MSV3d	rs80358094
GWAS Ctlg	rs80358094

Merged from

Rs587776491

Max Magnitude

6

ClinVar
Risk	rs80358094(A;A) rs80358094(C;C) rs80358094(T;T)
Alt	rs80358094(A;A) rs80358094(C;C) rs80358094(T;T)
Reference	Rs80358094(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41215890C>A; NC_000017.10:g.41215890C>G; NC_000017.10:g.41215890C>T
CLNSRC	Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000048820.3, RCV000112516.2, RCV000031223.6, RCV000225766.2, RCV000112514.2, RCV000222947.1,