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rs80359758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359758(-;-)
Make rs80359758(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32394816
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359758
ebirs80359758
HLIrs80359758
Exacrs80359758
Varsomers80359758
Maprs80359758
PheGenIrs80359758
hapmaprs80359758
1000 genomesrs80359758
hgdprs80359758
ensemblrs80359758
gopubmedrs80359758
geneviewrs80359758
scholarrs80359758
googlers80359758
pharmgkbrs80359758
gwascentralrs80359758
openSNPrs80359758
23andMers80359758
23andMe allrs80359758
SNP Nexus

SNPshotrs80359758
SNPdbers80359758
MSV3drs80359758
GWAS Ctlgrs80359758
Max Magnitude6
rs80359758, also known as 9612insG, c.9384_9385insG and p.Arg3128_Pro3129?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359758(G;G)
Alt rs80359758(G;G)
Reference rs80359758(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968953_32968954insG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000114101.1,