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: rs820878
rs820878 		1.000 0.120 5 74685445 missense variant T/C snv 0.97 0.97
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 10 1991 1998
dbSNP: rs2454846
rs2454846 		5 74663701 intron variant A/G snv 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10805890
rs10805890 		0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs10805890
rs10805890 		0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 1996 1996
dbSNP: rs10805890
rs10805890 		0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13
CUI: C2874270
Disease: GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, ADULT 		0.010 < 0.001 1 1996 1996
dbSNP: rs10805890
rs10805890 		0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13
CUI: C0751489
Disease: Adult Sandhoff Disease
Adult Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs28942073
rs28942073 		0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1991 2015
dbSNP: rs28942073
rs28942073 		0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
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: rs121907984
rs121907984 		1.000 0.120 5 74721131 missense variant G/A snv 8.6E-04 2.4E-04
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 10 1991 1998
dbSNP: rs121907985
rs121907985 		0.925 0.120 5 74720644 missense variant C/T snv 3.6E-05 4.2E-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 10 1991 1998
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: rs121907982
rs121907982 		1.000 0.120 5 74718921 missense variant A/C snv 8.8E-05 4.2E-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 10 1991 1998
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: rs121907983
rs121907983 		0.882 0.120 5 74720648 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 17 1991 2013
dbSNP: rs121907983
rs121907983 		0.882 0.120 5 74720648 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0751489
Disease: Adult Sandhoff Disease
Adult Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
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: rs121907986
rs121907986 		0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 9 1994 2018
dbSNP: rs121907986
rs121907986 		0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
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: 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: 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: rs892920643
rs892920643 		1.000 0.120 5 74696744 splice region variant G/A snv 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: 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