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: rs1042714
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2001 2001
dbSNP: rs1800206
rs1800206
PPARA
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2005 2005
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2006 2006
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: rs56225452
rs56225452
SLC27A5 ; ZBTB45 ; LOC105372486
0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2012 2018
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2012 2017
dbSNP: rs2854116
rs2854116
APOC3
0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2012 2017
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 1.000 3 2013 2017
dbSNP: rs12137855
rs12137855
LYPLAL1
0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2013 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2013 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2013 2014
dbSNP: rs780094
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 1.000 2 2013 2018
dbSNP: rs12784396
rs12784396
CWF19L1
0.925 0.040 10 100267650 5 prime UTR variant C/A;T snv
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs12980275
rs12980275 		0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs2228603
rs2228603
NCAN
0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs2862954
rs2862954
ERLIN1
0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445
CPT1B ; CHKB-CPT1B
0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs4240624
rs4240624
LOC157273
0.882 0.040 8 9326721 intron variant G/A snv 0.87
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs74315468
rs74315468
ARSA
0.882 0.040 22 50626841 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2013 2013
dbSNP: rs61750420
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2014 2014
dbSNP: rs58542926
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 1.000 11 2015 2018
dbSNP: rs1800588
rs1800588
LIPC ; ALDH1A2
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2015 2015
dbSNP: rs626283
rs626283
MBOAT7 ; TMC4 ; LOC112268246
0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 0.500 2 2017 2018
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