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rs80358546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358546(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319307
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358546
ebirs80358546
HLIrs80358546
Exacrs80358546
Varsomers80358546
Maprs80358546
PheGenIrs80358546
hapmaprs80358546
1000 genomesrs80358546
hgdprs80358546
ensemblrs80358546
gopubmedrs80358546
geneviewrs80358546
scholarrs80358546
googlers80358546
pharmgkbrs80358546
gwascentralrs80358546
openSNPrs80358546
23andMers80358546
23andMe allrs80358546
SNP Nexus

SNPshotrs80358546
SNPdbers80358546
MSV3drs80358546
GWAS Ctlgrs80358546
Max Magnitude6
rs80358546, also known as K100X, c.298A>T and p.Lys100Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358546(T;T)
Alt rs80358546(T;T)
Reference rs80358546(A;A)
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.32893444A>T
CLNSRC ClinVar
CLNACC RCV000044099.2, RCV000113370.1,