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rs193922708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922708(C;T)
Make rs193922708(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position31086683
GeneDSC2
is asnp
is mentioned by
dbSNPrs193922708
dbSNP (classic)rs193922708
ClinGenrs193922708
ebirs193922708
HLIrs193922708
Exacrs193922708
Gnomadrs193922708
Varsomers193922708
LitVarrs193922708
Maprs193922708
PheGenIrs193922708
Biobankrs193922708
1000 genomesrs193922708
hgdprs193922708
ensemblrs193922708
geneviewrs193922708
scholarrs193922708
googlers193922708
pharmgkbrs193922708
gwascentralrs193922708
openSNPrs193922708
23andMers193922708
SNPshotrs193922708
SNPdbers193922708
MSV3drs193922708
GWAS Ctlgrs193922708
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs193922708(T;T)
Alt rs193922708(T;T)
Reference Rs193922708(C;C)
Significance Probable-Pathogenic
Disease Cardiomyopathy not provided
Variation info
Gene DSC2
CLNDBN Cardiomyopathy not provided
Reversed 1
HGVS NC_000018.9:g.28666646G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029665.1, RCV000171894.1,