Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760474458
rs760474458
TBC1D24
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs760474458
rs760474458
TBC1D24
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014