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rs80359729

From SNPedia

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


Make rs80359729(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379351
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359729
ebirs80359729
HLIrs80359729
Exacrs80359729
Varsomers80359729
Maprs80359729
PheGenIrs80359729
hapmaprs80359729
1000 genomesrs80359729
hgdprs80359729
ensemblrs80359729
gopubmedrs80359729
geneviewrs80359729
scholarrs80359729
googlers80359729
pharmgkbrs80359729
gwascentralrs80359729
openSNPrs80359729
23andMers80359729
23andMe allrs80359729
SNP Nexus

SNPshotrs80359729
SNPdbers80359729
MSV3drs80359729
GWAS Ctlgrs80359729
Max Magnitude6
rs80359729, also known as 9017delA, c.8789_8789delA and p.Asn2930Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359729(;)
Alt rs80359729(;)
Reference rs80359729(A;A)
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.32953488delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045629.2, RCV000114000.1,