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: rs10098664
rs10098664 		8 11559984 non coding transcript exon variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs1478898
rs1478898 		8 11537570 intron variant G/A snv 0.41
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs2248325
rs2248325 		8 11539365 intron variant A/G snv 0.42
CUI: C0523829
Disease: Phosphatidylcholine measurement
Phosphatidylcholine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2255327
rs2255327 		8 11552483 intron variant C/T snv 1.2E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs4840568
rs4840568 		0.882 0.160 8 11493510 intron variant G/A snv 0.32
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2018 2018
dbSNP: rs11250144
rs11250144 		0.925 0.200 8 11528767 intron variant G/A;C snv
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11250144
rs11250144 		0.925 0.200 8 11528767 intron variant G/A;C snv
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2618479
rs2618479 		0.925 0.280 8 11498312 intron variant A/G snv 0.84
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2736345
rs2736345 		0.882 0.280 8 11494976 intron variant A/G snv 0.35
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4840568
rs4840568 		0.882 0.160 8 11493510 intron variant G/A snv 0.32
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs2248932
rs2248932 		0.882 0.160 8 11534141 intron variant A/G snv 0.60
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013