AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
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: rs1186238
rs1186238 		18 26857540 intron variant A/C snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555661648
rs1555661648 		0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2014
dbSNP: rs150587304
rs150587304 		1.000 0.120 18 26862573 stop gained C/A;G snv 3.2E-05; 2.9E-04
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2075575
rs2075575 		0.851 0.200 18 26866562 intron variant G/A snv 0.31
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3763040
rs3763040 		0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3763040
rs3763040 		0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3763040
rs3763040 		0.925 0.080 18 26864410 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043 		0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043 		0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043 		0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089 		0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089 		0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3875089
rs3875089 		0.925 0.080 18 26865469 intron variant T/C snv 0.19
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3906956
rs3906956 		1.000 0.040 18 26856350 missense variant A/G snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs72878794
rs72878794 		1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017