Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122965
rs398122965
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014

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

2014