CMA1, chymase 1, 1215

N. diseases: 157; N. variants: 2
Disease: Dejerine-Sottas Disease (disorder) ×
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: rs1800875
rs1800875 		0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015