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: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122968
rs398122968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122968
rs398122968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs747821285
rs747821285
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs747821285
rs747821285
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs760474458
rs760474458
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs760474458
rs760474458
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs797044548
rs797044548
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs797044548
rs797044548
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122967
rs398122967
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122968
rs398122968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014