Disease: Niemann-Pick Disease, Type C1 ×
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: rs120074134
rs120074134 		1.000 0.160 18 23556436 missense variant A/G snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 20 1997 2016
dbSNP: rs120074136
rs120074136 		1.000 0.160 18 23568949 missense variant A/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 20 1997 2016
dbSNP: rs28940897
rs28940897 		1.000 0.160 18 23539823 missense variant T/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 20 1997 2016
dbSNP: rs372030650
rs372030650 		0.925 0.160 18 23539985 missense variant T/A snv 4.8E-05 1.1E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2001 2016
dbSNP: rs543206298
rs543206298 		1.000 0.160 18 23539405 missense variant G/A snv 7.6E-05 9.8E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2000 2016
dbSNP: rs1057518942
rs1057518942 		1.000 0.160 18 23544424 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1160114136
rs1160114136 		1.000 0.160 18 23540458 stop gained G/A;T snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs120074130
rs120074130 		0.925 0.160 18 23539941 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs120074131
rs120074131 		0.925 0.160 18 23533470 missense variant C/G;T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1230538609
rs1230538609 		1.000 0.160 18 23560369 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1364834942
rs1364834942 		1.000 0.160 18 23538627 missense variant C/T snv 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs138184115
rs138184115 		1.000 0.160 18 23551720 missense variant C/A;T snv 1.7E-04; 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1393388896
rs1393388896 		1.000 0.160 18 23543529 missense variant A/G snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs140211089
rs140211089 		1.000 0.160 18 23536871 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1428599096
rs1428599096 		1.000 0.160 18 23539433 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555632958
rs1555632958 		1.000 0.160 18 23538596 missense variant A/C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555633697
rs1555633697 		1.000 0.160 18 23541314 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555634202
rs1555634202 		1.000 0.160 18 23543476 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555634452
rs1555634452 		1.000 0.160 18 23544456 missense variant C/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555634490
rs1555634490 		1.000 0.160 18 23544496 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555634739
rs1555634739 		1.000 0.160 18 23545071 missense variant T/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555636659
rs1555636659 		1.000 0.160 18 23554875 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs1555637157
rs1555637157 		1.000 0.160 18 23556407 missense variant C/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs28942106
rs28942106 		0.925 0.160 18 23535683 missense variant T/C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016
dbSNP: rs34084984
rs34084984 		1.000 0.160 18 23539384 missense variant T/C snv 8.5E-04 3.5E-03
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1997 2016