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rs80359118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80359118(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371062
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359118
ebirs80359118
HLIrs80359118
Exacrs80359118
Varsomers80359118
Maprs80359118
PheGenIrs80359118
hapmaprs80359118
1000 genomesrs80359118
hgdprs80359118
ensemblrs80359118
gopubmedrs80359118
geneviewrs80359118
scholarrs80359118
googlers80359118
pharmgkbrs80359118
gwascentralrs80359118
openSNPrs80359118
23andMers80359118
23andMe allrs80359118
SNP Nexus

SNPshotrs80359118
SNPdbers80359118
MSV3drs80359118
GWAS Ctlgrs80359118
Max Magnitude6
rs80359118, also known as L2865X, c.8594T>A and p.Leu2865Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359118(A;A)
Alt rs80359118(A;A)
Reference rs80359118(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32945199T>A
CLNSRC ClinVar
CLNACC RCV000045569.2, RCV000113968.1,