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: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.760 1.000 7 2013 2019
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2016
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2016
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.800 1.000 1 2011 2011
dbSNP: rs112699334
rs112699334 		22 31855624 intron variant T/C snv 2.2E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs136867
rs136867 		1.000 0.080 22 31876672 intron variant G/A;C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs136872
rs136872 		22 31885582 intron variant A/G snv 0.94
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs147481775
rs147481775 		1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2017 2017
dbSNP: rs149401731
rs149401731 		22 31812413 intron variant C/T snv 2.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs5994434
rs5994434 		22 31833663 intron variant G/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.700 1.000 1 2011 2011
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs78212183
rs78212183 		0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs78212183
rs78212183 		0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs541024038
rs541024038 		0.925 0.040 22 31843106 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 3 2013 2016
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2013 2015
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 3 2013 2017
dbSNP: rs1060501488
rs1060501488 		1.000 0.040 22 31778119 stop gained G/A snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015