SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Niemann-Pick Disease, Type B ×
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: rs794727705
rs794727705 		1.000 0.160 11 6393933 missense variant A/C snv
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs750779804
rs750779804 		0.925 0.160 11 6391813 missense variant A/C snv 8.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs120074123
rs120074123 		1.000 0.160 11 6393278 missense variant A/G snv 4.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 20 1991 2016
dbSNP: rs1554935731
rs1554935731 		1.000 0.160 11 6394504 missense variant A/G snv
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2016
dbSNP: rs779927660
rs779927660 		1.000 0.160 11 6392023 missense variant A/G snv 1.2E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs748589919
rs748589919 		1.000 0.160 11 6390750 missense variant A/G;T snv 1.2E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs794727629
rs794727629 		1.000 0.160 11 6393633 missense variant A/G;T snv 8.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs142787001
rs142787001 		1.000 0.160 11 6394261 missense variant A/T snv 2.3E-03 2.8E-03
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2016
dbSNP: rs387906289
rs387906289 		0.925 0.160 11 6392056 frameshift variant C/- delins
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 1993 2013
dbSNP: rs267607073
rs267607073 		1.000 0.160 11 6393667 missense variant C/A snv
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 20 1991 2016
dbSNP: rs120074128
rs120074128 		0.882 0.160 11 6391945 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 1997 2006
dbSNP: rs797044800
rs797044800 		0.925 0.160 11 6392141 missense variant C/A snv
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2016 2016
dbSNP: rs202081954
rs202081954 		1.000 0.160 11 6392060 missense variant C/A;G;T snv 1.6E-05; 4.5E-04; 8.0E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2016
dbSNP: rs1402734026
rs1402734026 		1.000 0.160 11 6393916 missense variant C/A;T snv 8.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2016
dbSNP: rs753508874
rs753508874 		0.925 0.160 11 6393985 missense variant C/A;T snv 2.0E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2003 2012
dbSNP: rs989639224
rs989639224 		0.882 0.160 11 6391753 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs761308217
rs761308217 		0.925 0.160 11 6392038 missense variant C/G snv 7.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 22 1991 2016
dbSNP: rs120074127
rs120074127 		0.925 0.160 11 6393680 stop gained C/G;T snv 5.6E-05; 1.6E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 1995 2012
dbSNP: rs120074126
rs120074126 		0.925 0.160 11 6393620 missense variant C/T snv 7.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 23 1991 2017
dbSNP: rs769904764
rs769904764 		0.925 0.160 11 6394203 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 23 1991 2016
dbSNP: rs1451199796
rs1451199796 		1.000 0.160 11 6393368 missense variant C/T snv 4.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2016
dbSNP: rs1057517195
rs1057517195 		0.925 0.160 11 6391622 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2011
dbSNP: rs182812968
rs182812968 		0.925 0.160 11 6393981 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2002 2013
dbSNP: rs398123478
rs398123478 		0.925 0.160 11 6394335 stop gained C/T snv 6.4E-05 7.0E-06
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 3 2012 2016
dbSNP: rs375915127
rs375915127 		1.000 0.160 11 6394539 missense variant C/T snv 3.6E-05 4.9E-05
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0