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rs41293461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0
(G;G) 0 common in clinvar
Make rs41293461(C;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43063373
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41293461
ebirs41293461
HLIrs41293461
Exacrs41293461
Varsomers41293461
Maprs41293461
PheGenIrs41293461
hapmaprs41293461
1000 genomesrs41293461
hgdprs41293461
ensemblrs41293461
gopubmedrs41293461
geneviewrs41293461
scholarrs41293461
googlers41293461
pharmgkbrs41293461
gwascentralrs41293461
openSNPrs41293461
23andMers41293461
23andMe allrs41293461
SNP Nexus

SNPshotrs41293461
SNPdbers41293461
MSV3drs41293461
GWAS Ctlgrs41293461
Max Magnitude6
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,C;A,C)
Alt rs41293461(A,C;A,C)
Reference rs41293461(G;G)
Significance 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.41215390C>G; NC_000017.10:g.41215390C>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000048831.2, RCV000112538.1, RCV000048830.2, RCV000112537.1, RCV000131832.2,