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rs80359701

From SNPedia

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


Make rs80359701(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32363448
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359701
ebirs80359701
HLIrs80359701
Exacrs80359701
Varsomers80359701
Maprs80359701
PheGenIrs80359701
hapmaprs80359701
1000 genomesrs80359701
hgdprs80359701
ensemblrs80359701
gopubmedrs80359701
geneviewrs80359701
scholarrs80359701
googlers80359701
pharmgkbrs80359701
gwascentralrs80359701
openSNPrs80359701
23andMers80359701
23andMe allrs80359701
SNP Nexus

SNPshotrs80359701
SNPdbers80359701
MSV3drs80359701
GWAS Ctlgrs80359701
Max Magnitude6
rs80359701, also known as 8474delAG, c.8246_8247delAG and p.Gln2749=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359701(;)
Alt rs80359701(;)
Reference rs80359701(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937586_32937587delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045461.2, RCV000077432.4, RCV000162938.1,