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rs80359358

From SNPedia

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


Make rs80359358(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337191
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359358
ebirs80359358
HLIrs80359358
Exacrs80359358
Varsomers80359358
Maprs80359358
PheGenIrs80359358
hapmaprs80359358
1000 genomesrs80359358
hgdprs80359358
ensemblrs80359358
gopubmedrs80359358
geneviewrs80359358
scholarrs80359358
googlers80359358
pharmgkbrs80359358
gwascentralrs80359358
openSNPrs80359358
23andMers80359358
23andMe allrs80359358
SNP Nexus

SNPshotrs80359358
SNPdbers80359358
MSV3drs80359358
GWAS Ctlgrs80359358
Max Magnitude6
rs80359358, also known as 3064delG, c.2836_2836delG and p.Asp946Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359358(;)
Alt rs80359358(;)
Reference rs80359358(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.32911328delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044072.2, RCV000113102.1,