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: rs797044818
rs797044818 		1.000 0.160 19 7530332 missense variant A/G snv 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 0
dbSNP: rs797044820
rs797044820 		1.000 0.160 19 7525092 frameshift variant AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT/TCA 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: rs797044821
rs797044821 		1.000 0.160 19 7526828 frameshift variant CC/- del
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: rs797044822
rs797044822 		1.000 0.160 19 7529175 frameshift variant -/T 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: 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: 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: 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: rs797044826
rs797044826 		1.000 0.160 19 7526852 missense variant G/T snv 4.0E-06 2.1E-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: 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: rs797044829
rs797044829 		1.000 0.160 19 7530314 missense variant G/A 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: rs797044830
rs797044830 		1.000 0.160 19 7526503 frameshift variant TC/- del
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: rs797044832
rs797044832 		1.000 0.160 19 7525164 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 0