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: rs190477302
rs190477302 		1.000 22 43932990 missense variant C/G;T snv 4.0E-06; 2.5E-04
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs2281135
rs2281135 		0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2008 2008
dbSNP: rs2281135
rs2281135 		0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		0.700 1.000 1 2008 2008
dbSNP: rs2281135
rs2281135 		0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		0.700 1.000 1 2008 2008
dbSNP: rs2281135
rs2281135 		0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2008 2008
dbSNP: rs6006460
rs6006460 		1.000 0.040 22 43946294 missense variant G/T snv 7.6E-03 3.1E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2072907
rs2072907 		0.882 0.120 22 43936773 intron variant C/G snv 0.20
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 0.667 3 2008 2009
dbSNP: rs2072907
rs2072907 		0.882 0.120 22 43936773 intron variant C/G snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2896019
rs2896019 		0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2896019
rs2896019 		0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2896019
rs2896019 		0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2010 2010
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs12483959
rs12483959 		1.000 22 43930116 intron variant G/A;C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2896019
rs2896019 		0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2011 2011
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2012
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2012
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2073082
rs2073082 		1.000 0.040 22 43964127 intron variant G/A snv 0.18
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.700 1.000 2 2012 2013
dbSNP: rs738409
rs738409 		0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2012 2013
dbSNP: rs1010022
rs1010022 		1.000 22 43940430 intron variant A/G snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.700 1.000 1 2013 2013
dbSNP: rs1010023
rs1010023 		0.851 0.080 22 43940218 intron variant T/C snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.700 1.000 1 2013 2013