Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139051
rs139051
PNPLA3
1.000 0.040 22 43928796 intron variant A/G snv 0.56 0.59
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 1.000 3 2012 2018
dbSNP: rs2072907
rs2072907
PNPLA3
0.882 0.120 22 43936773 intron variant C/G snv 0.20
CUI: C0028754
Disease: Obesity
Obesity 		0.030 0.667 3 2008 2009
dbSNP: rs4823173
rs4823173
PNPLA3
0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.020 1.000 2 2015 2018
dbSNP: rs1010023
rs1010023
PNPLA3
0.851 0.080 22 43940218 intron variant T/C snv 0.20
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 1.000 1 2017 2017
dbSNP: rs1010023
rs1010023
PNPLA3
0.851 0.080 22 43940218 intron variant T/C snv 0.20
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2017 2017
dbSNP: rs1010023
rs1010023
PNPLA3
0.851 0.080 22 43940218 intron variant T/C snv 0.20
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.010 1.000 1 2017 2017
dbSNP: rs2072906
rs2072906
PNPLA3
0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2015 2015
dbSNP: rs2072906
rs2072906
PNPLA3
0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2015 2015
dbSNP: rs2072906
rs2072906
PNPLA3
0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2015 2015
dbSNP: rs2072906
rs2072906
PNPLA3
0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2015 2015
dbSNP: rs2072907
rs2072907
PNPLA3
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 		0.010 < 0.001 1 2009 2009
dbSNP: rs2281135
rs2281135
PNPLA3
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 		0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2017 2017
dbSNP: rs2281135
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2019 2019
dbSNP: rs2896019
rs2896019
PNPLA3
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.710 1.000 1 2014 2018
dbSNP: rs2896019
rs2896019
PNPLA3
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.710 1.000 1 2012 2018
dbSNP: rs2896019
rs2896019
PNPLA3
0.790 0.160 22 43937814 intron variant T/G snv 0.20
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.810 1.000 1 2013 2018
dbSNP: rs2896019
rs2896019
PNPLA3
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 1 2013 2014
dbSNP: rs3810622
rs3810622
PNPLA3
1.000 0.040 22 43942254 intron variant T/C;G snv 0.40
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.710 1.000 1 2013 2016
dbSNP: rs4823173
rs4823173
PNPLA3
0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2015 2015
dbSNP: rs4823173
rs4823173
PNPLA3
0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2015 2015
dbSNP: rs738407
rs738407
PNPLA3
1.000 0.040 22 43928075 intron variant T/A;C;G snv
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.010 1.000 1 2014 2014
dbSNP: rs738491
rs738491
SAMM50 ; PNPLA3
0.882 0.040 22 43958231 intron variant C/T snv 0.34
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.710 1.000 1 2013 2015