C5, complement C5, 727

N. diseases: 129; N. variants: 20
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: rs1035029
rs1035029 		1.000 0.040 9 120980540 intron variant G/A snv 0.63
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41311933
rs41311933 		1.000 0.040 9 120977282 intron variant C/T snv 6.5E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7026551
rs7026551 		1.000 0.120 9 120970855 intron variant A/C snv 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs7037673
rs7037673 		1.000 0.120 9 120978206 intron variant C/T snv 0.39
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs7867876
rs7867876 		9 120961256 intron variant G/A snv 5.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121909587
rs121909587 		1.000 0.080 9 121050192 stop gained G/A snv 1.4E-04 4.2E-04
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121909588
rs121909588 		1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1554718962
rs1554718962 		1.000 0.080 9 120962955 frameshift variant C/- delins
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs373359894
rs373359894 		1.000 9 120997684 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C3810402
Disease: ECULIZUMAB, POOR RESPONSE TO
ECULIZUMAB, POOR RESPONSE TO 		0.700 0
dbSNP: rs387906554
rs387906554 		1.000 0.080 9 120953758 frameshift variant GG/C delins
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs56040400
rs56040400 		1.000 9 120997683 missense variant C/T snv 3.3E-04 1.0E-04
CUI: C3810402
Disease: ECULIZUMAB, POOR RESPONSE TO
ECULIZUMAB, POOR RESPONSE TO 		0.700 0
dbSNP: rs587776846
rs587776846 		1.000 0.080 9 121023405 missense variant T/C snv
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2012 2016
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2016 2016
dbSNP: rs1017119
rs1017119 		1.000 0.080 9 121045260 intron variant T/C snv 2.0E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1035029
rs1035029 		1.000 0.040 9 120980540 intron variant G/A snv 0.63
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs112959008
rs112959008 		9 121030401 missense variant C/G;T snv 3.2E-04
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs121909588
rs121909588 		1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs141829974
rs141829974 		1.000 0.040 9 121037923 synonymous variant G/A snv 2.6E-04 8.0E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2010 2010
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17611
rs17611 		0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019