TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607103
rs267607103
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		C 0.810 CausalMutation CLINVAR
dbSNP: rs267607104
rs267607104
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514713
rs397514713
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		C 0.800 CausalMutation CLINVAR
dbSNP: rs483352866
rs483352866
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057524191
rs1057524191
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057524191
rs1057524191
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057524191
rs1057524191
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555501140
rs1555501140
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555501140
rs1555501140
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555501140
rs1555501140
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555501320
rs1555501320
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567411469
rs1567411469
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567411469
rs1567411469
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567413218
rs1567413218
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1567413218
rs1567413218
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1567413218
rs1567413218
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514714
rs397514714
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122941
rs398122941
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs545689324
rs545689324
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs564477999
rs564477999
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1842531
Disease:
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		T 0.700 CausalMutation CLINVAR