Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555044700
rs1555044700
KMT2A
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178

2017