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rs193922706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922706(C;G)
Make rs193922706(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position14141742
GeneTMEM43
is asnp
is mentioned by
dbSNPrs193922706
dbSNP (classic)rs193922706
ClinGenrs193922706
ebirs193922706
HLIrs193922706
Exacrs193922706
Gnomadrs193922706
Varsomers193922706
LitVarrs193922706
Maprs193922706
PheGenIrs193922706
Biobankrs193922706
1000 genomesrs193922706
hgdprs193922706
ensemblrs193922706
geneviewrs193922706
scholarrs193922706
googlers193922706
pharmgkbrs193922706
gwascentralrs193922706
openSNPrs193922706
23andMers193922706
SNPshotrs193922706
SNPdbers193922706
MSV3drs193922706
GWAS Ctlgrs193922706
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs193922706(G;G) rs193922706(T;T)
Alt rs193922706(G;G) rs193922706(T;T)
Reference Rs193922706(C;C)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene TMEM43
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000003.11:g.14183242C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030552.1,