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rs80359732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359732(-;-)
Make rs80359732(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379502
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359732
ebirs80359732
HLIrs80359732
Exacrs80359732
Varsomers80359732
Maprs80359732
PheGenIrs80359732
hapmaprs80359732
1000 genomesrs80359732
hgdprs80359732
ensemblrs80359732
gopubmedrs80359732
geneviewrs80359732
scholarrs80359732
googlers80359732
pharmgkbrs80359732
gwascentralrs80359732
openSNPrs80359732
23andMers80359732
23andMe allrs80359732
SNP Nexus

SNPshotrs80359732
SNPdbers80359732
MSV3drs80359732
GWAS Ctlgrs80359732
Max Magnitude6
rs80359732, also known as 9168insA, c.8940_8941insA and p.Lys2980_Glu2981?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359732(A;A)
Alt rs80359732(A;A)
Reference rs80359732(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953639dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031778.4,