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rs80359612

From SNPedia

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


Make rs80359612(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340993
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359612
ebirs80359612
HLIrs80359612
Exacrs80359612
Varsomers80359612
Maprs80359612
PheGenIrs80359612
hapmaprs80359612
1000 genomesrs80359612
hgdprs80359612
ensemblrs80359612
gopubmedrs80359612
geneviewrs80359612
scholarrs80359612
googlers80359612
pharmgkbrs80359612
gwascentralrs80359612
openSNPrs80359612
23andMers80359612
23andMe allrs80359612
SNP Nexus

SNPshotrs80359612
SNPdbers80359612
MSV3drs80359612
GWAS Ctlgrs80359612
Max Magnitude6
rs80359612, also known as 6866delC, c.6638_6638delC and p.Ser2213Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359612(;)
Alt rs80359612(;)
Reference rs80359612(C;C)
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.32915130delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045002.2, RCV000113618.1,