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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2012 2013
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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.710 1.000 2 2011 2016
dbSNP: rs2279238
rs2279238 		0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs11039149
rs11039149 		0.827 0.280 11 47255124 intron variant A/G snv 0.19
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: 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: 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: rs3758673
rs3758673 		0.925 0.120 11 47257366 intron variant C/G;T snv
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: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic 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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2009 2012
dbSNP: rs10838681
rs10838681 		1.000 0.040 11 47253513 intron variant G/A snv 0.34
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
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: 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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
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: 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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
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: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11039149
rs11039149 		0.827 0.280 11 47255124 intron variant A/G snv 0.19
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs7120118
rs7120118 		0.716 0.360 11 47264739 intron variant T/C snv 0.38
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs11039149
rs11039149 		0.827 0.280 11 47255124 intron variant A/G snv 0.19
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011