Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912997
rs121912997
DSP
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121912997
rs121912997
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121912997
rs121912997
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 CausalMutation CLINVAR