CD58, CD58 molecule, 965

N. diseases: 80; N. variants: 7
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: rs2300747
rs2300747 		0.882 0.200 1 116561593 intron variant A/G snv 0.19
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.820 1.000 6 2009 2018
dbSNP: rs1335532
rs1335532 		1.000 0.080 1 116558335 intron variant A/G snv 0.28
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.810 1.000 5 2009 2018
dbSNP: rs2300747
rs2300747 		0.882 0.200 1 116561593 intron variant A/G snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6677309
rs6677309 		1.000 0.080 1 116537544 intron variant A/C snv 0.28
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2300747
rs2300747 		0.882 0.200 1 116561593 intron variant A/G snv 0.19
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1016140
rs1016140 		1.000 0.120 1 116533925 non coding transcript exon variant G/T snv 0.15
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12044852
rs12044852 		0.925 0.120 1 116545157 intron variant C/A snv 0.12
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12044852
rs12044852 		0.925 0.120 1 116545157 intron variant C/A snv 0.12
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1414273
rs1414273 		1.000 0.080 1 116560027 non coding transcript exon variant C/T snv 0.15 0.27
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56302466
rs56302466 		1.000 0.120 1 116541336 intron variant T/C snv 0.16
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017