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rs80358578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358578(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337674
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358578
ebirs80358578
HLIrs80358578
Exacrs80358578
Varsomers80358578
Maprs80358578
PheGenIrs80358578
hapmaprs80358578
1000 genomesrs80358578
hgdprs80358578
ensemblrs80358578
gopubmedrs80358578
geneviewrs80358578
scholarrs80358578
googlers80358578
pharmgkbrs80358578
gwascentralrs80358578
openSNPrs80358578
23andMers80358578
23andMe allrs80358578
SNP Nexus

SNPshotrs80358578
SNPdbers80358578
MSV3drs80358578
GWAS Ctlgrs80358578
Max Magnitude6
rs80358578, also known as Q1107X, c.3319C>T and p.Gln1107Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358578(T;T)
Alt rs80358578(T;T)
Reference rs80358578(C;C)
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.32911811C>T
CLNSRC ClinVar
CLNACC RCV000044177.2, RCV000113162.1, RCV000162918.1,