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: rs11090617
rs11090617
1.000 22 43930820 intron variant C/T snv 0.18
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs12483959
rs12483959
1.000 22 43930116 intron variant G/A;C;T snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs1474745
rs1474745
1.000 22 43953356 intron variant T/C snv 0.19
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs1883349
rs1883349
1.000 22 43936063 intron variant G/A snv 0.19
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs1883350
rs1883350
1.000 22 43932163 intron variant T/C snv 0.35
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs1977081
rs1977081
1.000 22 43934248 intron variant T/C;G snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2072905
rs2072905
1.000 22 43937599 intron variant C/G;T snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2072907
rs2072907
0.882 0.120 22 43936773 intron variant C/G snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2073081
rs2073081
1.000 22 43939864 intron variant T/C snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2076211
rs2076211
1.000 22 43933198 intron variant C/A;T snv 0.18
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2294916
rs2294916
1.000 22 43945042 intron variant T/G snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2896019
rs2896019
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4823173
rs4823173
0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs4823179
rs4823179
1.000 22 43945313 intron variant T/C snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs738408
rs738408
0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs926633
rs926633
1.000 22 43941653 intron variant G/A snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.700 1.000 1 2013 2013
dbSNP: rs2896019
rs2896019
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.710 1.000 2 2013 2014
dbSNP: rs738407
rs738407
1.000 0.040 22 43928075 intron variant T/A;C;G snv
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014