Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114727354
rs114727354
KMT5B
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		A 0.700 GeneticVariation CLINVAR Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 29276005

2018
dbSNP: rs114727354
rs114727354
KMT5B
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		A 0.700 CausalMutation CLINVAR