rs374319146, TBCK

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.700 GeneticVariation CLINVAR
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
0.700 GeneticVariation CLINVAR
Ventral septal defect (VSD)
CUI: C3150353
Disease: Ventral septal defect (VSD)
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
0.700 CausalMutation CLINVAR