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: rs652888
rs652888 		0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.800 1.000 1 2013 2013
dbSNP: rs535586
rs535586 		0.882 0.160 6 31892560 splice region variant T/A;C snv 0.77
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: rs652888
rs652888 		0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
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: rs659445
rs659445 		0.882 0.160 6 31896527 intron variant G/A;C snv 0.77 0.76
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: rs115062572
rs115062572 		1.000 0.040 6 31895099 intron variant C/T snv 1.6E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs115485095
rs115485095 		6 31888293 intron variant G/A snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115485095
rs115485095 		6 31888293 intron variant G/A snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115485095
rs115485095 		6 31888293 intron variant G/A snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115884658
rs115884658 		1.000 0.080 6 31896761 missense variant G/A snv 1.5E-02 1.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs118097312
rs118097312 		6 31898356 intron variant A/C snv 2.5E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs142520578
rs142520578 		1.000 0.040 6 31894038 intron variant G/A snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs142520578
rs142520578 		1.000 0.040 6 31894038 intron variant G/A snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs2243873
rs2243873 		1.000 0.080 6 31895656 non coding transcript exon variant C/A snv 0.61
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2243873
rs2243873 		1.000 0.080 6 31895656 non coding transcript exon variant C/A snv 0.61
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs2243873
rs2243873 		1.000 0.080 6 31895656 non coding transcript exon variant C/A snv 0.61
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs41267090
rs41267090 		1.000 0.080 6 31880663 non coding transcript exon variant A/G;T snv 8.0E-06; 4.5E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs486416
rs486416 		0.925 0.160 6 31888293 intron variant G/A snv 0.77 0.76
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs486416
rs486416 		0.925 0.160 6 31888293 intron variant G/A snv 0.77 0.76
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs535586
rs535586 		0.882 0.160 6 31892560 splice region variant T/A;C snv 0.77
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs535586
rs535586 		0.882 0.160 6 31892560 splice region variant T/A;C snv 0.77
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs589428
rs589428 		1.000 0.120 6 31880443 non coding transcript exon variant T/G snv 0.77
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs589428
rs589428 		1.000 0.120 6 31880443 non coding transcript exon variant T/G snv 0.77
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs589428
rs589428 		1.000 0.120 6 31880443 non coding transcript exon variant T/G snv 0.77
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs652888
rs652888 		0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs652888
rs652888 		0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2011 2011