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: rs2669845
rs2669845 		0.925 0.120 3 39279727 intron variant T/C snv 0.87
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2669845
rs2669845 		0.925 0.120 3 39279727 intron variant T/C snv 0.87
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17793056
rs17793056 		1.000 0.040 3 39267724 intron variant C/T snv 0.45
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11715522
rs11715522 		1.000 0.040 3 39281672 missense variant A/C snv 0.42 0.35
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1050592
rs1050592 		1.000 0.080 3 39265293 3 prime UTR variant A/G snv 0.22
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.080 0.875 8 2004 2018
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.080 1.000 8 2001 2014
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
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: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2006 2016
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2006 2016
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2009 2016
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2006 2011
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
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: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0149517
Disease: Chronic tonsillitis
Chronic tonsillitis 		Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0030481
Disease: Tropical Spastic Paraparesis
Tropical Spastic Paraparesis 		Infections; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0267465
Disease: Stenosis of intestine
Stenosis of intestine 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3732379
rs3732379 		0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014