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rs80358875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358875(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340737
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358875
ebirs80358875
HLIrs80358875
Exacrs80358875
Varsomers80358875
Maprs80358875
PheGenIrs80358875
hapmaprs80358875
1000 genomesrs80358875
hgdprs80358875
ensemblrs80358875
gopubmedrs80358875
geneviewrs80358875
scholarrs80358875
googlers80358875
pharmgkbrs80358875
gwascentralrs80358875
openSNPrs80358875
23andMers80358875
23andMe allrs80358875
SNP Nexus

SNPshotrs80358875
SNPdbers80358875
MSV3drs80358875
GWAS Ctlgrs80358875
Max Magnitude6
rs80358875, also known as K2128X, c.6382A>T and p.Lys2128Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358875(G,T;G,T)
Alt rs80358875(G,T;G,T)
Reference rs80358875(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.32914874A>T
CLNSRC ClinVar
CLNACC RCV000044927.2, RCV000113580.1,