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rs80359702

From SNPedia

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


Make rs80359702(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363449
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359702
ebirs80359702
HLIrs80359702
Exacrs80359702
Varsomers80359702
Maprs80359702
PheGenIrs80359702
hapmaprs80359702
1000 genomesrs80359702
hgdprs80359702
ensemblrs80359702
gopubmedrs80359702
geneviewrs80359702
scholarrs80359702
googlers80359702
pharmgkbrs80359702
gwascentralrs80359702
openSNPrs80359702
23andMers80359702
23andMe allrs80359702
SNP Nexus

SNPshotrs80359702
SNPdbers80359702
MSV3drs80359702
GWAS Ctlgrs80359702
Max Magnitude6
rs80359702, also known as 8475delGA, c.8247_8248delGA and p.Gln2749_Lys2750GlnAspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359702(;)
Alt rs80359702(;)
Reference rs80359702(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,