Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201257588
rs201257588
TBC1D24
0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122966
rs398122966
TBC1D24
0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs747821285
rs747821285
TBC1D24
0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs376712059
rs376712059
TBC1D24
A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732

2017
dbSNP: rs376712059
rs376712059
TBC1D24
A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906

2017
dbSNP: rs376712059
rs376712059
TBC1D24
A 0.700 GeneticVariation CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375

2015
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs376712059
rs376712059
TBC1D24
A 0.700 CausalMutation CLINVAR

dbSNP: rs797044547
rs797044547
TBC1D24
C 0.700 CausalMutation CLINVAR