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rs56329598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs56329598(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093316
GeneBRCA1
is asnp
is mentioned by
dbSNPrs56329598
ebirs56329598
HLIrs56329598
Exacrs56329598
Varsomers56329598
Maprs56329598
PheGenIrs56329598
hapmaprs56329598
1000 genomesrs56329598
hgdprs56329598
ensemblrs56329598
gopubmedrs56329598
geneviewrs56329598
scholarrs56329598
googlers56329598
pharmgkbrs56329598
gwascentralrs56329598
openSNPrs56329598
23andMers56329598
23andMe allrs56329598
SNP Nexus

SNPshotrs56329598
SNPdbers56329598
MSV3drs56329598
GWAS Ctlgrs56329598
Max Magnitude6
rs56329598, also known as K739X, c.2215A>T and p.Lys739Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs56329598(G,T;G,T)
Alt rs56329598(G,T;G,T)
Reference rs56329598(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.41245333T>A
CLNSRC ClinVar
CLNACC RCV000047763.2, RCV000111795.1,