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: rs1048372
rs1048372 		6 32642659 synonymous variant T/C snv 0.63 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115151282
rs115151282 		6 32632634 intron variant C/T snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs13214992
rs13214992 		6 32632808 5 prime UTR variant G/A snv 6.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs146682150
rs146682150 		6 32640505 intron variant -/A;GAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs200930495
rs200930495 		6 32644683 non coding transcript exon variant G/A snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs28755170
rs28755170 		6 32654355 regulatory region variant G/A snv 0.19
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3104369
rs3104369 		6 32634705 intron variant T/C snv 0.71
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		Infections 0.700 1.000 1 2013 2013
dbSNP: rs9272975
rs9272975 		6 32643544 3 prime UTR variant T/A snv 0.29
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9273039
rs9273039 		6 32644174 non coding transcript exon variant C/A;T snv
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.040 1.000 4 2013 2018
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 4 2008 2016
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
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: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2007 2010
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2009 2012
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
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: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2010 2010
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: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C1332355
Disease: Autoimmune Hepatitis with Centrilobular Necrosis
Autoimmune Hepatitis with Centrilobular Necrosis 		0.700 1.000 1 2014 2014
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		Digestive System Diseases 0.010 1.000 1 2014 2014