RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
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: rs1028344225
rs1028344225 		0.925 0.120 3 25596566 missense variant C/T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2013 2016
dbSNP: rs1028344225
rs1028344225 		0.925 0.120 3 25596566 missense variant C/T snv
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2013 2016
dbSNP: rs1028344225
rs1028344225 		0.925 0.120 3 25596566 missense variant C/T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10510554
rs10510554 		3 25058285 intron variant T/C snv 0.53
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 3 2015 2017
dbSNP: rs10510554
rs10510554 		3 25058285 intron variant T/C snv 0.53
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs10510562
rs10510562 		3 25340465 intron variant G/C snv 0.23
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11129182
rs11129182 		0.925 0.120 3 25129806 intron variant T/C snv 0.82
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11129182
rs11129182 		0.925 0.120 3 25129806 intron variant T/C snv 0.82
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1153606
rs1153606 		1.000 0.040 3 25532695 intron variant A/G snv 0.28
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs115463265
rs115463265 		3 24883579 intron variant C/T snv 2.4E-02
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs116199914
rs116199914 		1.000 0.120 3 25596864 3 prime UTR variant A/C;G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11712065
rs11712065 		3 25352369 non coding transcript exon variant A/G snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1286771
rs1286771 		3 25540021 intron variant T/C snv 0.19
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1286772
rs1286772 		0.925 0.120 3 25539285 intron variant C/G;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1286772
rs1286772 		0.925 0.120 3 25539285 intron variant C/G;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1303630
rs1303630 		3 25504009 intron variant A/C snv 0.61
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs13085461
rs13085461 		3 24908896 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 2 2017 2019
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.800 1.000 2 2012 2019
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 2 2011 2012
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2011 2011
dbSNP: rs1529672
rs1529672 		1.000 0.040 3 25479091 intron variant C/A;T snv
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2011 2011
dbSNP: rs1553637470
rs1553637470 		1.000 3 25593588 missense variant A/T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs1609783
rs1609783 		3 25054420 intron variant G/A snv 0.43
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019