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rs80359476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359476(-;-)
Make rs80359476(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339336
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359476
ebirs80359476
HLIrs80359476
Exacrs80359476
Varsomers80359476
Maprs80359476
PheGenIrs80359476
hapmaprs80359476
1000 genomesrs80359476
hgdprs80359476
ensemblrs80359476
gopubmedrs80359476
geneviewrs80359476
scholarrs80359476
googlers80359476
pharmgkbrs80359476
gwascentralrs80359476
openSNPrs80359476
23andMers80359476
23andMe allrs80359476
SNP Nexus

SNPshotrs80359476
SNPdbers80359476
MSV3drs80359476
GWAS Ctlgrs80359476
Max Magnitude6
rs80359476, also known as 5209insG, c.4981_4982insG and p.Tyr1661?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359476(G;G)
Alt rs80359476(G;G)
Reference rs80359476(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913473_32913474insG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113365.1,