rs41293461

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

17

Position

43063373

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs41293461
dbSNP (classic)	rs41293461
ClinGen	rs41293461
ebi	rs41293461
HLI	rs41293461
Exac	rs41293461
Gnomad	rs41293461
Varsome	rs41293461
LitVar	rs41293461
Map	rs41293461
PheGenI	rs41293461
Biobank	rs41293461
1000 genomes	rs41293461
hgdp	rs41293461
ensembl	rs41293461
geneview	rs41293461
scholar	rs41293461
google	rs41293461
pharmgkb	rs41293461
gwascentral	rs41293461
openSNP	rs41293461
23andMe	rs41293461
SNPshot	rs41293461
SNPdbe	rs41293461
MSV3d	rs41293461
GWAS Ctlg	rs41293461

Max Magnitude

6

rs41293461, also known as W1718X, c.5153G>A and p.Trp1718Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs41293461(A;A) Rs41293461(C;C)
Alt	rs41293461(A;A) Rs41293461(C;C)
Reference	Rs41293461(G;G)
Significance	Other
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.41215390C>G; NC_000017.10:g.41215390C>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000048831.2, RCV000112538.1, RCV000048830.2, RCV000112537.3, RCV000131832.3,