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: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.900 0.953 146 2009 2020
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: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.800 1.000 28 2010 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
Liver Cirrhosis, Alcoholic 		0.790 0.800 9 2010 2017
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.790 1.000 9 2010 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.730 1.000 3 2011 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: 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: 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
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 0.944 89 2009 2020
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 1.000 45 2009 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 0.946 37 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 0.862 29 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.100 1.000 28 2011 2020
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 0.889 27 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 0.958 24 2010 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 0.905 21 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.100 0.938 16 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0028754
Disease: Obesity
Obesity 		0.100 1.000 16 2008 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		0.100 1.000 14 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.100 1.000 13 2010 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		0.100 1.000 11 2011 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 1.000 11 2012 2019