Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519279
rs1057519279
KMT2B
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		T 0.700 GeneticVariation CLINVAR Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 27839873

2016
dbSNP: rs1057519279
rs1057519279
KMT2B
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		T 0.700 CausalMutation CLINVAR