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rs80359574

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 rs80359574(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340690
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359574
ebirs80359574
HLIrs80359574
Exacrs80359574
Varsomers80359574
Maprs80359574
PheGenIrs80359574
hapmaprs80359574
1000 genomesrs80359574
hgdprs80359574
ensemblrs80359574
gopubmedrs80359574
geneviewrs80359574
scholarrs80359574
googlers80359574
pharmgkbrs80359574
gwascentralrs80359574
openSNPrs80359574
23andMers80359574
23andMe allrs80359574
SNP Nexus

SNPshotrs80359574
SNPdbers80359574
MSV3drs80359574
GWAS Ctlgrs80359574
Max Magnitude6
rs80359574, also known as 6563delGA, c.6335_6336delGA and p.Arg2112Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359574(;)
Alt rs80359574(;)
Reference rs80359574(AG;AG)
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.32914827_32914828delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044917.2, RCV000113576.1,