rs80358119

Orientation

minus

Stabilized

minus

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

Make rs80358119(G;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43104959

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358119
dbSNP (classic)	rs80358119
ClinGen	rs80358119
ebi	rs80358119
HLI	rs80358119
Exac	rs80358119
Gnomad	rs80358119
Varsome	rs80358119
LitVar	rs80358119
Map	rs80358119
PheGenI	rs80358119
Biobank	rs80358119
1000 genomes	rs80358119
hgdp	rs80358119
ensembl	rs80358119
geneview	rs80358119
scholar	rs80358119
google	rs80358119
pharmgkb	rs80358119
gwascentral	rs80358119
openSNP	rs80358119
23andMe	rs80358119
SNPshot	rs80358119
SNPdbe	rs80358119
MSV3d	rs80358119
GWAS Ctlg	rs80358119

Max Magnitude

6

ClinVar
Risk	rs80358119(G;G)
Alt	rs80358119(G;G)
Reference	Rs80358119(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41256976G>C
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112027.1,