PTAFR, platelet activating factor receptor, 5724

N. diseases: 96; N. variants: 6
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: rs1629168
rs1629168 		1 28179554 intron variant G/A snv 0.29
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs6679420
rs6679420 		1 28174323 intron variant G/A snv 3.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6679420
rs6679420 		1 28174323 intron variant G/A snv 3.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1053983726
rs1053983726 		1.000 0.080 1 28150741 missense variant C/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs313152
rs313152 		0.851 0.120 1 28149490 3 prime UTR variant T/C snv 0.29
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs313152
rs313152 		0.851 0.120 1 28149490 3 prime UTR variant T/C snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs313152
rs313152 		0.851 0.120 1 28149490 3 prime UTR variant T/C snv 0.29
CUI: C0005750
Disease: Blind Loop Syndrome
Blind Loop Syndrome 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs313152
rs313152 		0.851 0.120 1 28149490 3 prime UTR variant T/C snv 0.29
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938 		0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03
CUI: C0005750
Disease: Blind Loop Syndrome
Blind Loop Syndrome 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938 		0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938 		0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938 		0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938 		0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs76744145
rs76744145 		1.000 0.040 1 28194780 upstream gene variant G/A snv 6.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017