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: rs12221497
rs12221497 		0.882 0.160 11 47259102 splice region variant G/A snv 0.11
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2019
dbSNP: rs12221497
rs12221497 		0.882 0.160 11 47259102 splice region variant G/A snv 0.11
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12221497
rs12221497 		0.882 0.160 11 47259102 splice region variant G/A snv 0.11
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12221497
rs12221497 		0.882 0.160 11 47259102 splice region variant G/A snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2013
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2012 2014
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11039155
rs11039155 		0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1449626
rs1449626 		1.000 0.040 11 47269208 5 prime UTR variant A/C snv 0.26
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs1449627
rs1449627 		1.000 0.040 11 47269433 5 prime UTR variant T/C;G snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs61731956
rs61731956 		0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.740 1.000 4 2016 2016
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2015
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2016 2018
dbSNP: rs61731956
rs61731956 		0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.020 1.000 2 2016 2016
dbSNP: rs61731956
rs61731956 		0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.020 1.000 2 2016 2016
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0016382
Disease: Flushing
Flushing 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012