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: rs2075799
rs2075799 		1.000 0.040 6 31810752 synonymous variant C/T snv 0.10 0.13
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.800 1.000 1 2012 2012
dbSNP: rs2227956
rs2227956 		0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.710 1.000 2 2010 2016
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 1 2019 2019
dbSNP: rs2075800
rs2075800 		0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs2227956
rs2227956 		0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs139868987
rs139868987 		1.000 0.040 6 31811173 missense variant G/A snv 8.4E-05 1.8E-04
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2075800
rs2075800 		0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2075800
rs2075800 		0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs2227955
rs2227955 		1.000 0.040 6 31810300 missense variant T/G snv 3.2E-02 4.2E-02
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2227956
rs2227956 		0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs34620296
rs34620296 		1.000 0.040 6 31811171 missense variant C/T snv 4.9E-03 1.9E-03
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs368138379
rs368138379 		1.000 0.040 6 31811744 missense variant C/T snv 7.0E-06
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs750447828
rs750447828 		1.000 0.040 6 31811456 inframe deletion TTA/- del 7.6E-05 1.1E-04
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs2227956
rs2227956 		0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs562047
rs562047 		0.882 0.080 6 31816086 missense variant G/C snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.010 1.000 1 2016 2016