HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
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: rs201580118
rs201580118 		1.000 0.120 5 74720617 intron variant G/A;C snv 4.8E-05; 8.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 1989 2016
dbSNP: rs764552042
rs764552042 		1.000 0.120 5 74720731 missense variant C/T snv 3.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2011 2016
dbSNP: rs761197472
rs761197472 		1.000 0.120 5 74689474 splice donor variant G/A;C;T snv 4.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1994 2012
dbSNP: rs5030731
rs5030731 		1.000 0.120 5 74715695 splice region variant G/A;C snv 4.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs1554035308
rs1554035308 		1.000 0.120 5 74696692 splice acceptor variant G/T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs794727091
rs794727091 		1.000 0.120 5 74720665 frameshift variant GA/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2012 2016
dbSNP: rs1164691
rs1164691 		5 74721319 missense variant G/A;T snv 2.6E-05; 6.5E-06
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1554034452
rs1554034452 		1.000 0.120 5 74685406 stop gained C/A snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1554036943
rs1554036943 		1.000 0.120 5 74718943 stop gained C/G snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs573447174
rs573447174 		1.000 0.120 5 74696733 stop gained T/C;G snv 4.1E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs761117459
rs761117459 		1.000 0.120 5 74689361 stop gained G/A;C snv 8.0E-06; 1.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs771973471
rs771973471 		1.000 0.120 5 74685430 frameshift variant G/-;GG delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs938611392
rs938611392 		1.000 0.120 5 74693641 missense variant A/C;G snv 4.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1007338250
rs1007338250 		1.000 0.120 5 74685558 stop gained C/G;T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060499701
rs1060499701 		1.000 0.120 5 74685559 missense variant G/A;C;T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167287
rs1114167287 		1.000 0.120 5 74685430 stop gained G/A snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554034423
rs1554034423 		1.000 0.120 5 74685315 frameshift variant T/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554034447
rs1554034447 		1.000 0.120 5 74685377 frameshift variant G/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554034449
rs1554034449 		1.000 0.120 5 74685391 frameshift variant G/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554034505
rs1554034505 		1.000 0.120 5 74685560 splice donor variant G/A snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554036523
rs1554036523 		1.000 0.120 5 74713558 frameshift variant T/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554036638
rs1554036638 		1.000 0.120 5 74715509 splice acceptor variant G/T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554037076
rs1554037076 		1.000 0.120 5 74720415 splice acceptor variant ATTTTAATTTAGG/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554037120
rs1554037120 		1.000 0.120 5 74720654 frameshift variant G/- del
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554037129
rs1554037129 		1.000 0.120 5 74720691 frameshift variant -/GAGA delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0