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rs80359683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359683(-;-)
Make rs80359683(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362523
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359683
ebirs80359683
HLIrs80359683
Exacrs80359683
Varsomers80359683
Maprs80359683
PheGenIrs80359683
hapmaprs80359683
1000 genomesrs80359683
hgdprs80359683
ensemblrs80359683
gopubmedrs80359683
geneviewrs80359683
scholarrs80359683
googlers80359683
pharmgkbrs80359683
gwascentralrs80359683
openSNPrs80359683
23andMers80359683
23andMe allrs80359683
SNP Nexus

SNPshotrs80359683
SNPdbers80359683
MSV3drs80359683
GWAS Ctlgrs80359683
Max Magnitude6
rs80359683, also known as 8034insAG, c.7806_7807insAG and p.Arg2602_Ala2603?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359683(GA;GA)
Alt rs80359683(GA;GA)
Reference rs80359683(;)
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.32936660_32936661insAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045324.2, RCV000113828.1,