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: 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: rs121907983
rs121907983 		0.882 0.120 5 74720648 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C1849320
Disease: Sandhoff Disease, Adult Type
Sandhoff Disease, Adult Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907985
rs121907985 		0.925 0.120 5 74720644 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C4310842
Disease: SANDHOFF DISEASE, CHRONIC
SANDHOFF DISEASE, CHRONIC 		0.700 0
dbSNP: rs121907986
rs121907986 		0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0751490
Disease: Infantile Sandhoff Disease
Infantile Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs138914144
rs138914144 		1.000 0.120 5 74713575 stop gained C/T snv 2.0E-05 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1453919511
rs1453919511 		1.000 0.120 5 74713512 missense variant T/C snv 1.4E-05
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
dbSNP: rs1554037137
rs1554037137 		1.000 0.120 5 74720708 stop gained -/CTATGACAGACTGACA 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: rs1554037170
rs1554037170 		1.000 0.120 5 74720743 splice donor variant CGAGT/- 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: rs28942073
rs28942073 		0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C1849321
Disease: Sandhoff Disease, Juvenile Type
Sandhoff Disease, Juvenile Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28942073
rs28942073 		0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C1849320
Disease: Sandhoff Disease, Adult Type
Sandhoff Disease, Adult Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123443
rs398123443 		1.000 0.120 5 74685374 frameshift variant G/- delins 3.5E-05
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: rs398123446
rs398123446 		1.000 0.120 5 74718795 splice acceptor variant A/G snv 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 0
dbSNP: rs776476415
rs776476415 		1.000 0.120 5 74715629 frameshift variant TGAG/- delins 5.2E-05 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039499
rs886039499 		1.000 0.120 5 74685558 frameshift variant C/- 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