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: rs1228068212
rs1228068212 		1.000 0.160 11 6392005 splice acceptor variant G/A snv 4.0E-06 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 0.700 0
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
dbSNP: rs398123477
rs398123477 		1.000 0.160 11 6394023 missense variant T/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 0
dbSNP: rs559088058
rs559088058 		1.000 0.160 11 6393257 missense variant G/A snv 7.2E-05 5.6E-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 0
dbSNP: rs727504166
rs727504166 		0.925 0.160 11 6391540 missense variant T/C snv 1.2E-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 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: rs749595299
rs749595299 		1.000 0.160 11 6391669 missense variant C/T snv 1.3E-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 0
dbSNP: rs749780769
rs749780769 		1.000 0.160 11 6391598 missense variant T/A snv 3.0E-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 0
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: rs751269562
rs751269562 		0.925 0.160 11 6390912 missense variant T/C 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 0
dbSNP: rs752148586
rs752148586 		1.000 0.160 11 6391912 missense variant G/A;T snv 2.0E-05; 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 0
dbSNP: rs779528546
rs779528546 		1.000 0.160 11 6393650 missense variant T/C snv 4.0E-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 0
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: rs780134410
rs780134410 		1.000 0.160 11 6391553 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 0
dbSNP: rs794727252
rs794727252 		0.925 0.160 11 6391846 frameshift variant TGTTGAGTGGGCTGGGCCCAGCC/- delins 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 0.700 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: rs797044797
rs797044797 		1.000 0.160 11 6391481 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 0
dbSNP: rs797044798
rs797044798 		0.925 0.160 11 6391657 missense variant G/C snv 4.9E-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: rs868423827
rs868423827 		0.925 0.160 11 6390839 stop gained C/T snv 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 0
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: 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: 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