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rs2230234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2230234(A;G)
Make rs2230234(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31524751
GeneDSG2
is asnp
is mentioned by
dbSNPrs2230234
ebirs2230234
HLIrs2230234
Exacrs2230234
Varsomers2230234
Maprs2230234
PheGenIrs2230234
hapmaprs2230234
1000 genomesrs2230234
hgdprs2230234
ensemblrs2230234
gopubmedrs2230234
geneviewrs2230234
scholarrs2230234
googlers2230234
pharmgkbrs2230234
gwascentralrs2230234
openSNPrs2230234
23andMers2230234
23andMe allrs2230234
SNP Nexus

SNPshotrs2230234
SNPdbers2230234
MSV3drs2230234
GWAS Ctlgrs2230234
GMAF0.03857
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2230234(G,T;G,T)
Alt rs2230234(G,T;G,T)
Reference rs2230234(A;A)
Significance Probable-Pathogenic
Disease not specified Cardiomyopathy
Variation info
Gene DSG2
CLNDBN not specified Cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29104714A>G; NC_000018.9:g.29104714A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000037319.3, RCV000029672.3, RCV000212490.1,



GET Evidence
DSG2-I293V
aa_change Ile293Val
aa_change_short I293V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0630705
summary