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: rs1997352
rs1997352 		3 25496826 intron variant C/A;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.800 1.000 1 2012 2012
dbSNP: rs2363527
rs2363527 		1.000 0.040 3 24931301 intron variant T/C snv 0.16
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs34296249
rs34296249 		3 25215505 intron variant G/A snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs397518481
rs397518481 		0.925 0.120 3 25501230 stop gained C/G;T snv
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
dbSNP: rs397518481
rs397518481 		0.925 0.120 3 25501230 stop gained C/G;T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs397518482
rs397518482 		1.000 3 25596470 frameshift variant -/TC delins
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2007 2016
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2013 2016
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2013 2016
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;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: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 1.000 1 2013 2013
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis 		0.010 1.000 1 2019 2019
dbSNP: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs4858697
rs4858697 		3 25075091 intron variant A/G snv 0.53
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs4858697
rs4858697 		3 25075091 intron variant A/G snv 0.53
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6776706
rs6776706 		0.851 0.080 3 25439731 intron variant T/A snv 0.27
CUI: C4725671
Disease: High-Risk Neuroblastoma
High-Risk Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6776706
rs6776706 		0.851 0.080 3 25439731 intron variant T/A snv 0.27
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6776706
rs6776706 		0.851 0.080 3 25439731 intron variant T/A snv 0.27
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6776706
rs6776706 		0.851 0.080 3 25439731 intron variant T/A snv 0.27
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6782972
rs6782972 		0.925 0.080 3 24922859 intron variant A/G snv 0.31
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs6782972
rs6782972 		0.925 0.080 3 24922859 intron variant A/G snv 0.31
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs6804842
rs6804842 		3 25064946 intron variant A/G snv 0.53
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 5 2015 2019
dbSNP: rs6804842
rs6804842 		3 25064946 intron variant A/G snv 0.53
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017