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: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.090 1.000 9 2001 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.060 1.000 6 2010 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2011 2017
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2009 2018
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2010 2017
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2002 2009
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: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2014 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.030 1.000 3 2010 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.030 1.000 3 2011 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.030 1.000 3 2012 2019
dbSNP: rs231779
rs231779 		0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2010 2018
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: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.810 1.000 3 2010 2019
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2014 2018
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2014 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2013
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2018 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2001 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2016
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2015 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 2011 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 2011 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2015