AQP1, aquaporin 1 (Colton blood group), 358

N. diseases: 268; N. variants: 8
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: rs10276670
rs10276670 		7 30916874 intron variant A/G snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28362721
rs28362721 		7 30918087 intron variant C/T snv 0.15
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs104894004
rs104894004 		7 30912022 missense variant C/A;T snv 2.4E-05
CUI: C1862554
Disease: COLTON-NULL PHENOTYPE
COLTON-NULL PHENOTYPE 		0.700 0
dbSNP: rs1049305
rs1049305 		0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52
CUI: C0003962
Disease: Ascites
Ascites 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1049305
rs1049305 		0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1049305
rs1049305 		0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1049305
rs1049305 		0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1215603718
rs1215603718 		0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1215603718
rs1215603718 		0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1215603718
rs1215603718 		0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs28362731
rs28362731 		7 30922175 missense variant G/A snv 3.1E-02 2.6E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362731
rs28362731 		7 30922175 missense variant G/A snv 3.1E-02 2.6E-02
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs760999882
rs760999882 		1.000 0.080 7 30923591 missense variant G/A snv 3.6E-05 5.6E-05
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs773268484
rs773268484 		0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs773268484
rs773268484 		0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs773268484
rs773268484 		0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs773268484
rs773268484 		0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019