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rs80359359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359359(-;-)
Make rs80359359(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337197
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359359
ebirs80359359
HLIrs80359359
Exacrs80359359
Varsomers80359359
Maprs80359359
PheGenIrs80359359
hapmaprs80359359
1000 genomesrs80359359
hgdprs80359359
ensemblrs80359359
gopubmedrs80359359
geneviewrs80359359
scholarrs80359359
googlers80359359
pharmgkbrs80359359
gwascentralrs80359359
openSNPrs80359359
23andMers80359359
23andMe allrs80359359
SNP Nexus

SNPshotrs80359359
SNPdbers80359359
MSV3drs80359359
GWAS Ctlgrs80359359
Max Magnitude6
rs80359359, also known as 3070insG, c.2842_2843insG and p.Val948?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359359(G;G)
Alt rs80359359(G;G)
Reference rs80359359(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911334dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113104.1,