OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
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: rs3740422
rs3740422 		10 101806203 intron variant G/C snv 0.27
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1277240795
rs1277240795 		1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs1277240795
rs1277240795 		1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1300858963
rs1300858963 		10 101799033 missense variant G/A snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1458523090
rs1458523090 		1.000 0.120 10 101799149 missense variant G/A snv 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
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
dbSNP: rs989461497
rs989461497 		1.000 0.120 10 101799396 missense variant C/T snv 7.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013