MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Mucolipidoses ×
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: rs104886461
rs104886461 		0.925 0.160 19 7526759 splice acceptor variant A/G snv 2.1E-04 8.4E-05
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2000 2013