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: rs587779408
rs587779408 		0.882 0.160 11 6391804 missense variant G/A snv 2.4E-05 2.8E-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 25 1991 2016
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: 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: rs120074122
rs120074122 		0.925 0.160 11 6391795 stop gained G/A;T snv 2.8E-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 20 1991 2016
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: rs120074125
rs120074125 		0.882 0.160 11 6393301 missense variant T/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: 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: 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: 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: 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: rs120074121
rs120074121 		0.925 0.160 11 6393276 missense variant G/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 0.700 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: 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: rs144873307
rs144873307 		1.000 0.160 11 6394029 missense variant G/A snv 9.3E-04 1.1E-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: 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: rs1554935371
rs1554935371 		1.000 0.160 11 6394041 missense variant G/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 0.700 1.000 20 1991 2016
dbSNP: rs1554935555
rs1554935555 		0.925 0.160 11 6394314 missense variant T/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 0.700 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: rs200763423
rs200763423 		0.925 0.160 11 6391807 stop gained G/A;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: 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: rs370129081
rs370129081 		0.925 0.160 11 6394516 missense variant G/A snv 1.6E-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 0.700 1.000 20 1991 2016
dbSNP: rs747342458
rs747342458 		1.000 0.160 11 6394445 missense variant G/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 0.700 1.000 20 1991 2016
dbSNP: rs763566905
rs763566905 		1.000 0.160 11 6393982 missense variant G/A snv 3.6E-05 1.4E-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: rs764317969
rs764317969 		1.000 0.160 11 6391745 missense variant T/C snv 4.1E-06 7.1E-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 0.700 1.000 20 1991 2016