rs80358083

Orientation

minus

Stabilized

minus

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

Make rs80358083(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106453

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358083
dbSNP (classic)	rs80358083
ClinGen	rs80358083
ebi	rs80358083
HLI	rs80358083
Exac	rs80358083
Gnomad	rs80358083
Varsome	rs80358083
LitVar	rs80358083
Map	rs80358083
PheGenI	rs80358083
Biobank	rs80358083
1000 genomes	rs80358083
hgdp	rs80358083
ensembl	rs80358083
geneview	rs80358083
scholar	rs80358083
google	rs80358083
pharmgkb	rs80358083
gwascentral	rs80358083
openSNP	rs80358083
23andMe	rs80358083
SNPshot	rs80358083
SNPdbe	rs80358083
MSV3d	rs80358083
GWAS Ctlg	rs80358083

Max Magnitude

6

c.212+3A>G

ClinVar clinical significance not provided

ClinVar
Risk	rs80358083(G;G)
Alt	rs80358083(G;G)
Reference	Rs80358083(A;A)
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.41258470T>C
CLNSRC	Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000047719.2, RCV000083178.4,