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rs80359517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359517(-;-)
Make rs80359517(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339847
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359517
ebirs80359517
HLIrs80359517
Exacrs80359517
Varsomers80359517
Maprs80359517
PheGenIrs80359517
hapmaprs80359517
1000 genomesrs80359517
hgdprs80359517
ensemblrs80359517
gopubmedrs80359517
geneviewrs80359517
scholarrs80359517
googlers80359517
pharmgkbrs80359517
gwascentralrs80359517
openSNPrs80359517
23andMers80359517
23andMe allrs80359517
SNP Nexus

SNPshotrs80359517
SNPdbers80359517
MSV3drs80359517
GWAS Ctlgrs80359517
Max Magnitude6
rs80359517, also known as 5720insT, c.5492_5493insT and p.Ile1831?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359517(T;T)
Alt rs80359517(T;T)
Reference rs80359517(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913984dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113439.1,