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rs80359689

From SNPedia

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


Make rs80359689(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362671
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359689
ebirs80359689
HLIrs80359689
Exacrs80359689
Varsomers80359689
Maprs80359689
PheGenIrs80359689
hapmaprs80359689
1000 genomesrs80359689
hgdprs80359689
ensemblrs80359689
gopubmedrs80359689
geneviewrs80359689
scholarrs80359689
googlers80359689
pharmgkbrs80359689
gwascentralrs80359689
openSNPrs80359689
23andMers80359689
23andMe allrs80359689
SNP Nexus

SNPshotrs80359689
SNPdbers80359689
MSV3drs80359689
GWAS Ctlgrs80359689
Max Magnitude6
rs80359689, also known as 8182delG, c.7954_7954delG and p.Val2652Cysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359689(;)
Alt rs80359689(;)
Reference rs80359689(G;G)
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.32936808delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045354.2, RCV000113843.1,