MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
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: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.700 0
dbSNP: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		Eye Diseases 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		Eye Diseases 0.700 0
dbSNP: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		Mental Disorders 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		Mental Disorders 0.700 0
dbSNP: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057516904
rs1057516904 		0.925 0.160 19 7528881 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 1998 2016
dbSNP: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
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
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: 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: 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: 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: 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