Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555184777
rs1555184777
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		G 0.700 GeneticVariation CLINVAR How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750

2012