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rs80359175

From SNPedia

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


Make rs80359175(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380071
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359175
ebirs80359175
HLIrs80359175
Exacrs80359175
Varsomers80359175
Maprs80359175
PheGenIrs80359175
hapmaprs80359175
1000 genomesrs80359175
hgdprs80359175
ensemblrs80359175
gopubmedrs80359175
geneviewrs80359175
scholarrs80359175
googlers80359175
pharmgkbrs80359175
gwascentralrs80359175
openSNPrs80359175
23andMers80359175
23andMe allrs80359175
SNP Nexus

SNPshotrs80359175
SNPdbers80359175
MSV3drs80359175
GWAS Ctlgrs80359175
Max Magnitude6
rs80359175, also known as L3061X, c.9182T>A and p.Leu3061Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359175(A;A)
Alt rs80359175(A;A)
Reference rs80359175(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32954208T>A
CLNSRC ClinVar
CLNACC RCV000045739.2, RCV000114061.1, RCV000162941.1,