KMT5B, lysine methyltransferase 5B, 51111

N. diseases: 27; N. variants: 12
Disease: Abnormal muscle tone ×
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: rs878853164
rs878853164 		1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		Nervous System Diseases 0.700 0