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: rs9272346
rs9272346 		0.790 0.320 6 32636595 intron variant G/A snv 0.54
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: rs9272535
rs9272535 		0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03
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: rs9272535
rs9272535 		0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs9272535
rs9272535 		0.827 0.280 6 32638979 synonymous variant G/A snv 3.0E-05 1.8E-03
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9272723
rs9272723 		0.925 0.200 6 32641650 intron variant T/C snv
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: rs9272853
rs9272853 		1.000 0.120 6 32642928 3 prime UTR variant G/A;C;T snv 1.0E-02
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: rs9272346
rs9272346 		0.790 0.320 6 32636595 intron variant G/A snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 4 2012 2019
dbSNP: rs6927022
rs6927022 		1.000 0.040 6 32644620 non coding transcript exon variant A/G snv 0.42
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs9272105
rs9272105 		0.925 0.120 6 32632222 intron variant G/A snv 0.55
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.810 1.000 2 2012 2015
dbSNP: rs114549185
rs114549185 		1.000 0.040 6 32633427 intron variant C/G snv 5.2E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs114798579
rs114798579 		1.000 0.040 6 32629564 intron variant G/A snv 4.6E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12722039
rs12722039 		0.925 0.120 6 32637507 missense variant G/A snv 5.7E-02 8.4E-02
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13207922
rs13207922 		1.000 0.040 6 32628470 intron variant G/T snv 5.0E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13211715
rs13211715 		1.000 0.040 6 32632691 intron variant G/A snv 5.9E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13215343
rs13215343 		1.000 0.040 6 32633277 intron variant C/A;G snv 5.0E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs147897616
rs147897616 		1.000 0.040 6 32638205 intron variant -/A;G ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17211510
rs17211510 		1.000 0.120 6 32634653 intron variant C/A snv 0.26
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17612858
rs17612858 		1.000 0.040 6 32652845 intergenic variant A/T snv 0.56
CUI: C1280469
Disease: Podoconiosis
Podoconiosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17843604
rs17843604 		0.925 0.120 6 32652506 intergenic variant C/T snv 0.49
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs199889539
rs199889539 		1.000 0.040 6 32637642 intron variant -/T ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2036202
rs2036202 		1.000 0.040 6 32628532 intron variant C/T snv 0.76
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2133035
rs2133035 		1.000 0.040 6 32628698 intron variant C/A snv 0.27
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs28383362
rs28383362 		1.000 0.040 6 32639087 3 prime UTR variant T/C snv 0.16
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs28383363
rs28383363 		1.000 0.040 6 32639091 3 prime UTR variant T/C snv 0.17
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012