KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
Disease: Hyperactive patellar reflex ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555731819
rs1555731819 		0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0