DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Disease: MYOTONIC DYSTROPHY 1 ×
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: rs762280354
rs762280354 		1.000 0.120 19 45777542 stop gained G/A;C snv 4.0E-06; 1.2E-05
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0