STH, saitohin, 246744

N. diseases: 27; N. variants: 4
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: rs62063857
rs62063857 		0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.730 0.750 4 2010 2017
dbSNP: rs2471738
rs2471738 		0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs1078268
rs1078268 		0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268 		0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268 		0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs62063854
rs62063854 		1.000 0.080 17 45997253 intron variant G/A snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs62063857
rs62063857 		0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2471738
rs2471738 		0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2009 2017
dbSNP: rs2471738
rs2471738 		0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2471738
rs2471738 		0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs62063857
rs62063857 		0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2015 2015