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rs80359611

From SNPedia

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


Make rs80359611(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340984
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359611
ebirs80359611
HLIrs80359611
Exacrs80359611
Varsomers80359611
Maprs80359611
PheGenIrs80359611
hapmaprs80359611
1000 genomesrs80359611
hgdprs80359611
ensemblrs80359611
gopubmedrs80359611
geneviewrs80359611
scholarrs80359611
googlers80359611
pharmgkbrs80359611
gwascentralrs80359611
openSNPrs80359611
23andMers80359611
23andMe allrs80359611
SNP Nexus

SNPshotrs80359611
SNPdbers80359611
MSV3drs80359611
GWAS Ctlgrs80359611
Max Magnitude6
rs80359611, also known as 6857delAA, c.6629_6630delAA and p.Glu2210Glyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359611(;)
Alt rs80359611(;)
Reference rs80359611(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.32915121_32915122delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044996.2, RCV000113615.1,