OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
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: rs750904605
rs750904605 		1.000 0.120 10 101803966 missense variant T/C 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 0.010 1.000 1 2007 2007