MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Mucolipidosis Type IV ×
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: rs121908374
rs121908374 		1.000 0.160 19 7529173 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 14 2000 2017
dbSNP: rs121908372
rs121908372 		1.000 0.160 19 7528920 missense variant G/T snv 8.0E-06 4.2E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 16 2000 2017
dbSNP: rs754097561
rs754097561 		1.000 0.160 19 7529689 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2000 2017
dbSNP: rs767122713
rs767122713 		1.000 0.160 19 7527877 missense variant A/C snv 1.6E-05 1.4E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2000 2017
dbSNP: rs797044825
rs797044825 		1.000 0.160 19 7526518 missense variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs797044827
rs797044827 		1.000 0.160 19 7529693 missense variant T/C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs797044828
rs797044828 		1.000 0.160 19 7530321 missense variant C/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs104886461
rs104886461 		0.925 0.160 19 7526759 splice acceptor variant A/G snv 2.1E-04 8.4E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 2000 2009
dbSNP: rs797044824
rs797044824 		1.000 0.160 19 7526869 stop gained C/T snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2000 2015
dbSNP: rs121908371
rs121908371 		1.000 0.160 19 7528683 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2000 2011
dbSNP: rs121908373
rs121908373 		1.000 0.160 19 7526505 stop gained C/T snv 2.4E-05 2.8E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2000 2002
dbSNP: rs767950930
rs767950930 		1.000 0.160 19 7528704 splice donor variant G/A snv 1.6E-05 1.4E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2000 2001
dbSNP: rs797044823
rs797044823 		1.000 0.160 19 7530370 frameshift variant -/GGCCGCAGCAG delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2001 2002
dbSNP: rs1555742780
rs1555742780 		1.000 0.160 19 7533561 frameshift variant G/- delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs751298168
rs751298168 		1.000 0.160 19 7533651 stop gained A/C;T snv 4.0E-06
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs797044817
rs797044817 		1.000 0.160 19 7529184 inframe deletion TTC/- delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1057516246
rs1057516246 		1.000 0.160 19 7522782 splice donor variant G/A snv 2.8E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516458
rs1057516458 		1.000 0.160 19 7529100 splice acceptor variant G/A;C snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516531
rs1057516531 		1.000 0.160 19 7530373 stop gained C/A;T snv 4.0E-06
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516602
rs1057516602 		1.000 0.160 19 7524978 frameshift variant -/C delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516904
rs1057516904 		0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517040
rs1057517040 		1.000 0.160 19 7528235 frameshift variant -/A ins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517335
rs1057517335 		1.000 0.160 19 7529099 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517453
rs1057517453 		1.000 0.160 19 7527862 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741545
rs1555741545 		1.000 0.160 19 7524959 splice acceptor variant A/G snv
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0