Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519595
rs1057519595
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.700 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813

2013