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rs80359529

From SNPedia

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


Make rs80359529(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340072
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359529
ebirs80359529
HLIrs80359529
Exacrs80359529
Varsomers80359529
Maprs80359529
PheGenIrs80359529
hapmaprs80359529
1000 genomesrs80359529
hgdprs80359529
ensemblrs80359529
gopubmedrs80359529
geneviewrs80359529
scholarrs80359529
googlers80359529
pharmgkbrs80359529
gwascentralrs80359529
openSNPrs80359529
23andMers80359529
23andMe allrs80359529
SNP Nexus

SNPshotrs80359529
SNPdbers80359529
MSV3drs80359529
GWAS Ctlgrs80359529
Max Magnitude6
rs80359529, also known as 5945delAC, c.5717_5718delAC and p.Asn1906Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359529(;)
Alt rs80359529(;)
Reference rs80359529(AC;AC)
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.32914209_32914210delAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044726.2, RCV000113467.1,