Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518571
rs1057518571
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016