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rs80358783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358783(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339969
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358783
ebirs80358783
HLIrs80358783
Exacrs80358783
Varsomers80358783
Maprs80358783
PheGenIrs80358783
hapmaprs80358783
1000 genomesrs80358783
hgdprs80358783
ensemblrs80358783
gopubmedrs80358783
geneviewrs80358783
scholarrs80358783
googlers80358783
pharmgkbrs80358783
gwascentralrs80358783
openSNPrs80358783
23andMers80358783
23andMe allrs80358783
SNP Nexus

SNPshotrs80358783
SNPdbers80358783
MSV3drs80358783
GWAS Ctlgrs80358783
Max Magnitude6
rs80358783, also known as K1872X, c.5614A>T and p.Lys1872Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358783(T;T)
Alt rs80358783(T;T)
Reference rs80358783(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914106A>T
CLNSRC ClinVar
CLNACC RCV000044696.4, RCV000113450.1, RCV000162926.1, RCV000212241.1,