rs80356993

Orientation

minus

Stabilized

minus

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

Make rs80356993(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43063937

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356993
dbSNP (classic)	rs80356993
ClinGen	rs80356993
ebi	rs80356993
HLI	rs80356993
Exac	rs80356993
Gnomad	rs80356993
Varsome	rs80356993
LitVar	rs80356993
Map	rs80356993
PheGenI	rs80356993
Biobank	rs80356993
1000 genomes	rs80356993
hgdp	rs80356993
ensembl	rs80356993
geneview	rs80356993
scholar	rs80356993
google	rs80356993
pharmgkb	rs80356993
gwascentral	rs80356993
openSNP	rs80356993
23andMe	rs80356993
SNPshot	rs80356993
SNPdbe	rs80356993
MSV3d	rs80356993
GWAS Ctlg	rs80356993

Max Magnitude

6

ClinVar
Risk	rs80356993(A;A) rs80356993(C;C)
Alt	rs80356993(A;A) rs80356993(C;C)
Reference	Rs80356993(T;T)
Significance	Probable-Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41215954A>G; NC_000017.10:g.41215954A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000048785.2, RCV000077594.3, RCV000163799.2, RCV000129428.2,