HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Disease: Movement Disorders ×
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: rs121907960
rs121907960 		1.000 0.120 15 72349148 inframe deletion GAA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 1986 2011
dbSNP: rs587779406
rs587779406 		1.000 0.120 15 72346552 synonymous variant G/A snv 8.0E-05 1.0E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 1986 2011