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rs80359628

From SNPedia

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


Make rs80359628(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32346830
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359628
ebirs80359628
HLIrs80359628
Exacrs80359628
Varsomers80359628
Maprs80359628
PheGenIrs80359628
hapmaprs80359628
1000 genomesrs80359628
hgdprs80359628
ensemblrs80359628
gopubmedrs80359628
geneviewrs80359628
scholarrs80359628
googlers80359628
pharmgkbrs80359628
gwascentralrs80359628
openSNPrs80359628
23andMers80359628
23andMe allrs80359628
SNP Nexus

SNPshotrs80359628
SNPdbers80359628
MSV3drs80359628
GWAS Ctlgrs80359628
Max Magnitude6
rs80359628, also known as 7169delC, c.6941_6941delC and p.Thr2314Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359628(;)
Alt rs80359628(;)
Reference rs80359628(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32920967delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031656.5, RCV000045091.2,