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: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3732378
rs3732378 		0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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