Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 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: rs398122967
rs398122967
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: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

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

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

2014
dbSNP: rs1553212868
rs1553212868
POGZ
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555706928
rs1555706928
SETBP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
C 0.700 CausalMutation CLINVAR