Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123753
rs398123753
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.700 CausalMutation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178

2017
dbSNP: rs398123753
rs398123753
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.700 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015