CX3CR1, C-X3-C motif chemokine receptor 1, 1524

N. diseases: 310; N. variants: 10
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: rs12636547
rs12636547 		1.000 0.040 3 39275337 intron variant G/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2853707
rs2853707 		0.925 0.120 3 39282792 upstream gene variant G/A;C;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2853707
rs2853707 		0.925 0.120 3 39282792 upstream gene variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs750585901
rs750585901 		0.925 0.040 3 39266347 missense variant C/T snv 8.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs750585901
rs750585901 		0.925 0.040 3 39266347 missense variant C/T snv 8.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.090 0.778 9 2004 2018
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.080 1.000 8 2005 2014
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.040 1.000 4 2005 2016
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.040 1.000 4 2005 2016
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2003 2016
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2006 2011
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.020 1.000 2 2005 2018
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2003 2011
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2006 2006
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2018
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0149517
Disease: Chronic tonsillitis
Chronic tonsillitis 		Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2006 2006
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0267465
Disease: Stenosis of intestine
Stenosis of intestine 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012