rs80356947

Orientation

minus

Stabilized

minus

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

Make rs80356947(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099808

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356947
dbSNP (classic)	rs80356947
ClinGen	rs80356947
ebi	rs80356947
HLI	rs80356947
Exac	rs80356947
Gnomad	rs80356947
Varsome	rs80356947
LitVar	rs80356947
Map	rs80356947
PheGenI	rs80356947
Biobank	rs80356947
1000 genomes	rs80356947
hgdp	rs80356947
ensembl	rs80356947
geneview	rs80356947
scholar	rs80356947
google	rs80356947
pharmgkb	rs80356947
gwascentral	rs80356947
openSNP	rs80356947
23andMe	rs80356947
SNPshot	rs80356947
SNPdbe	rs80356947
MSV3d	rs80356947
GWAS Ctlg	rs80356947

Max Magnitude

6

rs80356947, also known as Q172X, c.514C>T and p.Gln172Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356947(T;T)
Alt	rs80356947(T;T)
Reference	Rs80356947(C;C)
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.41251825G>A
CLNSRC	ClinVar
CLNACC	RCV000048816.2, RCV000077602.6,