HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Gangliosidoses, GM2 ×
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: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs121907958
rs121907958 		0.925 0.120 15 72346597 missense variant C/G snv 8.0E-06 2.8E-05
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs138058578
rs138058578 		1.000 0.120 15 72350578 missense variant G/A snv 1.9E-04 1.8E-04
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs199578185
rs199578185 		0.925 0.120 15 72349181 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003