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: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.030 1.000 3 2009 2014
dbSNP: rs231774
rs231774 		2 203867500 upstream gene variant T/A snv 0.96
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 1.000 1 2005 2005
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1096116
Disease: Acquired haemophilia
Acquired haemophilia 		0.010 1.000 1 2008 2008
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1833450
Disease: HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1857845
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		Cardiovascular Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5742909
rs5742909 		0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.333 3 2003 2008
dbSNP: rs16840252
rs16840252 		0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
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 2019 2019
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
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 2019 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.030 1.000 3 2005 2014
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5742909
rs5742909 		0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019