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: rs1555642296
rs1555642296 		1.000 0.160 18 23573487 frameshift variant -/A ins
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 0
dbSNP: rs1555632971
rs1555632971 		1.000 0.160 18 23538609 missense variant CC/AT mnv
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 1 1998 1998
dbSNP: rs756815030
rs756815030 		0.925 0.160 18 23538610 frameshift variant CT/- del 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 8 1999 2015
dbSNP: rs1064794009
rs1064794009 		1.000 0.160 18 23533374 frameshift variant AG/- del
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 5 1999 2014
dbSNP: rs797044431
rs797044431 		0.925 0.160 18 23536878 splice acceptor variant T/- del
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 2 1999 2000
dbSNP: rs1057516260
rs1057516260 		1.000 0.160 18 23561362 frameshift variant G/- del
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 0
dbSNP: rs1057516603
rs1057516603 		1.000 0.160 18 23539831 frameshift variant G/- del
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 0
dbSNP: rs1057517149
rs1057517149 		1.000 0.160 18 23535621 frameshift variant T/- del
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 0
dbSNP: rs1057517186
rs1057517186 		1.000 0.160 18 23568889 frameshift variant C/- del
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 0
dbSNP: rs1057517455
rs1057517455 		1.000 0.160 18 23548052 frameshift variant A/- del
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 0
dbSNP: rs1555631610
rs1555631610 		1.000 0.160 18 23533437 frameshift variant GAATATC/- del
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 0
dbSNP: rs483352883
rs483352883 		1.000 0.160 18 23556539 frameshift variant A/- del
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 0
dbSNP: rs759075595
rs759075595 		0.925 0.160 18 23568933 frameshift variant CT/- delins 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 5 1999 2014
dbSNP: rs886042270
rs886042270 		1.000 0.160 18 23544987 frameshift variant C/- delins
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 3 2017 2018
dbSNP: rs1555631642
rs1555631642 		1.000 0.160 18 23533496 frameshift variant TA/C delins
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 2 2003 2012
dbSNP: rs1555635957
rs1555635957 		1.000 0.160 18 23551653 frameshift variant G/- delins
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 2 2001 2003
dbSNP: rs749012588
rs749012588 		1.000 0.160 18 23568834 frameshift variant CT/- delins 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 2 2001 2010
dbSNP: rs758231839
rs758231839 		1.000 0.160 18 23534475 frameshift variant C/- delins 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 2 2009 2017
dbSNP: rs761910746
rs761910746 		1.000 0.160 18 23539357 frameshift variant -/AA delins 4.0E-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 2 2015 2016
dbSNP: rs762124334
rs762124334 		1.000 0.160 18 23560260 frameshift variant A/-;AA delins
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 2 2009 2012
dbSNP: rs774943545
rs774943545 		0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-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 2 1999 2010
dbSNP: rs1057516462
rs1057516462 		1.000 0.160 18 23568891 frameshift variant G/- delins
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 1 2001 2001
dbSNP: rs1057518711
rs1057518711 		1.000 0.160 18 23560273 frameshift variant A/- delins
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 1 2017 2017
dbSNP: rs1555632977
rs1555632977 		1.000 0.160 18 23538617 frameshift variant CT/- delins
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 1 1999 1999
dbSNP: rs1555633309
rs1555633309 		1.000 0.160 18 23539894 frameshift variant C/- delins
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 1 2014 2014