CD59, CD59 molecule (CD59 blood group), 966

N. diseases: 262; 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: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.810 1.000 3 1992 2015
dbSNP: rs2273121
rs2273121 		11 33736224 intron variant G/A snv 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs831636
rs831636 		11 33718052 non coding transcript exon variant G/A snv 0.35
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1554939509
rs1554939509 		1.000 0.160 11 33710323 missense variant A/C snv
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777149
rs587777149 		1.000 0.160 11 33717393 frameshift variant T/- del
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C4727002
Disease: Chronic Hemolysis
Chronic Hemolysis 		0.020 1.000 2 2015 2018
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514767
rs397514767 		0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs831626
rs831626 		0.925 0.080 11 33724804 intron variant T/C snv 0.15
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs831626
rs831626 		0.925 0.080 11 33724804 intron variant T/C snv 0.15
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs861256
rs861256 		1.000 0.080 11 33725787 intron variant C/A;T snv
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017