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: rs1977080
rs1977080
22 43934151 intron variant C/T snv 0.19
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs1977080
rs1977080
22 43934151 intron variant C/T snv 0.19
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2018 2018
dbSNP: rs1977081
rs1977081
1.000 22 43934248 intron variant T/C;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2018 2018
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: rs2072907
rs2072907
0.882 0.120 22 43936773 intron variant C/G snv 0.20
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009
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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2017 2017
dbSNP: rs2076211
rs2076211
1.000 22 43933198 intron variant C/A;T snv 0.18
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
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: C0040147
Disease: Thyroiditis
Thyroiditis
Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0023895
Disease: Liver diseases
Liver diseases
Digestive System Diseases 0.010 1.000 1 2017 2017
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: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
0.851 0.160 22 43936690 intron variant G/A snv 0.19
Serum Alanine Aminotransferase Measurement
0.700 1.000 1 2008 2008
dbSNP: rs2281293
rs2281293
22 43938962 intron variant T/C snv 0.20
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs2294433
rs2294433
22 43933395 intron variant G/A;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2018 2018
dbSNP: rs2294915
rs2294915
1.000 0.040 22 43945024 intron variant C/G;T snv
High density lipoprotein measurement
0.700 1.000 1 2018 2018
dbSNP: rs2294915
rs2294915
1.000 0.040 22 43945024 intron variant C/G;T snv
Serum Alanine Aminotransferase Measurement
0.700 1.000 1 2019 2019