MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: Microcolon ×
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: rs1553787823
rs1553787823 		0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins
CUI: C0266200
Disease: Microcolon
Microcolon 		Digestive System Diseases 0.700 1.000 1 2017 2017