HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Tay-Sachs Disease ×
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: rs121907954
rs121907954 		0.807 0.120 15 72350518 missense variant C/G;T snv 1.3E-04
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.830 1.000 30 1988 2016
dbSNP: rs28941770
rs28941770 		0.925 0.120 15 72353105 missense variant C/A;G;T snv 4.8E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 29 1988 2016
dbSNP: rs121907966
rs121907966 		0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 29 1988 2016
dbSNP: rs121907971
rs121907971 		0.882 0.120 15 72350551 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 21 1988 2016
dbSNP: rs121907956
rs121907956 		0.925 0.120 15 72345476 missense variant C/T snv 5.6E-05 3.5E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 34 1988 2016
dbSNP: rs28942071
rs28942071 		1.000 0.120 15 72345462 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 31 1984 2016
dbSNP: rs121907955
rs121907955 		0.925 0.120 15 72345461 missense variant C/A;T snv 4.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 30 1988 2016
dbSNP: rs121907957
rs121907957 		1.000 0.120 15 72353129 missense variant C/T snv 7.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1988 2016
dbSNP: rs121907952
rs121907952 		1.000 0.120 15 72345528 stop gained C/A;T snv 8.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1982 2016
dbSNP: rs772180415
rs772180415 		1.000 0.120 15 72349101 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 24 1988 2016
dbSNP: rs121907953
rs121907953 		0.851 0.160 15 72353106 missense variant G/A snv 2.0E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1988 2016
dbSNP: rs121907958
rs121907958 		0.925 0.120 15 72346597 missense variant C/G snv 8.0E-06 2.8E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907961
rs121907961 		1.000 0.120 15 72351176 missense variant G/A snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907972
rs121907972 		0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907974
rs121907974 		1.000 0.120 15 72351173 missense variant A/G snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907975
rs121907975 		1.000 0.120 15 72355591 missense variant A/C snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907978
rs121907978 		0.925 0.160 15 72346296 missense variant C/G;T snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs121907979
rs121907979 		1.000 0.120 15 72375857 missense variant A/C snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs370266293
rs370266293 		0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs748190164
rs748190164 		0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs863225434
rs863225434 		1.000 0.120 15 72346271 missense variant T/A snv 4.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1988 2016
dbSNP: rs1057519467
rs1057519467 		0.925 0.160 15 72345540 missense variant C/T snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2008 2012
dbSNP: rs387906309
rs387906309 		0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 26 1988 2019
dbSNP: rs121907981
rs121907981 		0.882 0.120 15 72345550 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 20 1988 2016
dbSNP: rs1057521137
rs1057521137 		1.000 0.120 15 72350575 missense variant C/T snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 22 1988 2016