HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Electroencephalogram abnormal ×
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: rs387906309
rs387906309 		0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs1057519464
rs1057519464 		0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121907966
rs121907966 		0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972 		0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057519466
rs1057519466 		0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0