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: rs9282114
rs9282114 		1.000 0.040 6 32661903 non coding transcript exon variant -/C ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs201386475
rs201386475 		1.000 0.120 6 32668286 5 prime UTR variant -/CA delins
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: rs9274407
rs9274407 		0.925 0.120 6 32665055 missense variant A/C;T snv 0.77
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2011 2011
dbSNP: rs9274407
rs9274407 		0.925 0.120 6 32665055 missense variant A/C;T snv 0.77
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		Digestive System Diseases; Chemically-Induced Disorders 0.800 1.000 1 2011 2011
dbSNP: rs9274407
rs9274407 		0.925 0.120 6 32665055 missense variant A/C;T snv 0.77
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1063348
rs1063348 		1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1063348
rs1063348 		1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1770
rs1770 		1.000 0.120 6 32660056 splice region variant A/G snv 0.31
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs2854272
rs2854272 		1.000 0.040 6 32661903 non coding transcript exon variant A/G snv 0.38
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs28724231
rs28724231 		1.000 0.080 6 32659314 upstream gene variant A/G snv 2.9E-02
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9273401
rs9273401 		1.000 0.080 6 32659352 upstream gene variant A/G snv 0.10
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 2016 2016
dbSNP: rs9273404
rs9273404 		1.000 0.040 6 32659383 upstream gene variant A/G snv 0.56
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9273643
rs9273643 		0.925 0.120 6 32661407 missense variant A/G snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs9273643
rs9273643 		0.925 0.120 6 32661407 missense variant A/G snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs9273643
rs9273643 		0.925 0.120 6 32661407 missense variant A/G snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs9274477
rs9274477 		0.925 0.080 6 32665936 intron variant A/G snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs9274477
rs9274477 		0.925 0.080 6 32665936 intron variant A/G snv
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs9274600
rs9274600 		6 32667815 intron variant A/G snv 0.43
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs3189152
rs3189152 		1.000 0.080 6 32666564 missense variant A/G;T snv 0.19 0.39
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs9274659
rs9274659 		1.000 0.080 6 32668608 upstream gene variant A/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs41563814
rs41563814 		1.000 0.040 6 32664881 missense variant A/T snv 3.2E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2854275
rs2854275 		0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2854275
rs2854275 		0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2854275
rs2854275 		0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02
CUI: C0201278
Disease: Antibody measurement (procedure)
Antibody measurement (procedure) 		0.700 1.000 1 2013 2013
dbSNP: rs2854275
rs2854275 		0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		Infections 0.800 1.000 1 2013 2013