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rs80359600

From SNPedia

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


Make rs80359600(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340864
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359600
ebirs80359600
HLIrs80359600
Exacrs80359600
Varsomers80359600
Maprs80359600
PheGenIrs80359600
hapmaprs80359600
1000 genomesrs80359600
hgdprs80359600
ensemblrs80359600
gopubmedrs80359600
geneviewrs80359600
scholarrs80359600
googlers80359600
pharmgkbrs80359600
gwascentralrs80359600
openSNPrs80359600
23andMers80359600
23andMe allrs80359600
SNP Nexus

SNPshotrs80359600
SNPdbers80359600
MSV3drs80359600
GWAS Ctlgrs80359600
Max Magnitude6
rs80359600, also known as 6737delAA, c.6509_6510delAA and p.Lys2170Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359600(;)
Alt rs80359600(;)
Reference rs80359600(AA;AA)
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.32915001_32915002delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044974.2, RCV000113601.1,