Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.020 1.000 2 2000 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0032533
Disease: Polymyalgia Rheumatica
Polymyalgia Rheumatica
0.010 1.000 1 2000 2000
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.030 1.000 3 2001 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.030 1.000 3 2001 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 0.500 4 2003 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.010 < 0.001 1 2004 2004
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 1.000 2 2006 2009
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.020 1.000 2 2006 2006
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.020 1.000 2 2006 2008
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 1.000 1 2006 2006
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2006 2006
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0265706
Disease: Gastroschisis
Gastroschisis
0.010 1.000 1 2006 2006
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 < 0.001 2 2007 2013
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0860564
Disease: Retinoic acid syndrome
Retinoic acid syndrome
0.010 1.000 1 2007 2007
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 1.000 1 2007 2007
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.010 1.000 1 2007 2007
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2007 2007
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
Congenital atresia of extrahepatic bile duct
0.010 1.000 1 2008 2008
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.010 1.000 1 2008 2008
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C1619727
Disease: Decompensated cirrhosis of liver
Decompensated cirrhosis of liver
0.010 1.000 1 2008 2008
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C4699184
Disease: Fuchs
Fuchs
0.010 1.000 1 2010 2010
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0042164
Disease: Uveitis
Uveitis
0.010 1.000 1 2010 2010
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.020 0.500 2 2011 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 1.000 1 2012 2012
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.010 1.000 1 2013 2013