Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2900180
rs2900180
C5-OT1
0.827 0.280 9 120944104 regulatory region variant T/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.830 1.000 5 2007 2019
dbSNP: rs387906554
rs387906554
C5 ; C5-OT1
1.000 0.080 9 120953758 frameshift variant GG/C delins
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.700 0
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.090 1.000 9 2008 2014
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 1.000 5 2008 2013
dbSNP: rs2416808
rs2416808
C5-OT1
1.000 0.120 9 120944005 regulatory region variant G/A snv 0.45
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2010 2010
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.010 < 0.001 1 2015 2015
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2010 2010
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2019 2019
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2016 2016
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		0.010 1.000 1 2019 2019
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 < 0.001 1 2015 2015
dbSNP: rs2900180
rs2900180
C5-OT1
0.827 0.280 9 120944104 regulatory region variant T/A;C snv
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2016 2016
dbSNP: rs2900180
rs2900180
C5-OT1
0.827 0.280 9 120944104 regulatory region variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2008 2008
dbSNP: rs2900180
rs2900180
C5-OT1
0.827 0.280 9 120944104 regulatory region variant T/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2900180
rs2900180
C5-OT1
0.827 0.280 9 120944104 regulatory region variant T/A;C snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2010 2010