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rs80359601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80359601(-;-)
Make rs80359601(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340890
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359601
ebirs80359601
HLIrs80359601
Exacrs80359601
Varsomers80359601
Maprs80359601
PheGenIrs80359601
hapmaprs80359601
1000 genomesrs80359601
hgdprs80359601
ensemblrs80359601
gopubmedrs80359601
geneviewrs80359601
scholarrs80359601
googlers80359601
pharmgkbrs80359601
gwascentralrs80359601
openSNPrs80359601
23andMers80359601
23andMe allrs80359601
SNP Nexus

SNPshotrs80359601
SNPdbers80359601
MSV3drs80359601
GWAS Ctlgrs80359601
Max Magnitude6
rs80359601, also known as 6763insA, c.6535_6536insA and p.Val2179?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359601(GA,GG;GA,GG)
Alt rs80359601(GA,GG;GA,GG)
Reference rs80359601(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32915027_32915028insA
CLNSRC
CLNACC RCV000031632.2, RCV000044980.2,