RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
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: rs121918584
rs121918584 		0.925 0.040 10 93600739 missense variant A/T snv
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 1.000 3 1999 2012
dbSNP: rs121918585
rs121918585 		0.925 0.040 10 93600470 missense variant C/T snv
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 1.000 3 1999 2012
dbSNP: rs794726861
rs794726861 		1.000 10 93600692 missense variant C/T snv
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.800 0
dbSNP: rs794726862
rs794726862 		1.000 10 93600698 missense variant C/T snv
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.800 0
dbSNP: rs1329285216
rs1329285216 		0.925 0.080 10 93593997 missense variant A/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1329285216
rs1329285216 		0.925 0.080 10 93593997 missense variant A/T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs36014035
rs36014035 		10 93600270 intron variant A/C snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56057449
rs56057449 		10 93597029 intron variant T/G snv 0.10
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs111785373
rs111785373 		10 93600666 splice donor variant C/A;G;T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0
dbSNP: rs112811136
rs112811136 		1.000 10 93600917 splice donor variant C/A;G;T snv
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 0
dbSNP: rs3758539
rs3758539 		0.925 0.120 10 93601831 intron variant C/T snv 0.13
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2014 2016
dbSNP: rs121918584
rs121918584 		0.925 0.040 10 93600739 missense variant A/T snv
CUI: C0856901
Disease: Retinol Deficiency
Retinol Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121918585
rs121918585 		0.925 0.040 10 93600470 missense variant C/T snv
CUI: C0856901
Disease: Retinol Deficiency
Retinol Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs34571439
rs34571439 		10 93591553 intron variant A/C snv 0.24
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis 		0.010 1.000 1 2017 2017
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0494491
Disease: Mononeuropathies
Mononeuropathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs370579379
rs370579379 		0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3758538
rs3758538 		1.000 0.080 10 93602293 intron variant T/G snv 0.18
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3758538
rs3758538 		1.000 0.080 10 93602293 intron variant T/G snv 0.18
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3758539
rs3758539 		0.925 0.120 10 93601831 intron variant C/T snv 0.13
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 2011 2011
dbSNP: rs3758539
rs3758539 		0.925 0.120 10 93601831 intron variant C/T snv 0.13
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3758539
rs3758539 		0.925 0.120 10 93601831 intron variant C/T snv 0.13
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011