Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs738409
rs738409
PNPLA3
80 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 28 2010 2019
dbSNP: rs2896019
rs2896019
PNPLA3
4 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 1 2013 2014
dbSNP: rs738491
rs738491
SAMM50 ; PNPLA3
2 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 1 2013 2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.060 1.000 6 1998 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
201 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 1999 2012
dbSNP: rs58542926
rs58542926
TM6SF2
38 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.050 1.000 5 2015 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2008
dbSNP: rs1260326
rs1260326
GCKR
21 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.020 1.000 2 2013 2014
dbSNP: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2018 2018
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs7946
rs7946
PEMT
5 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.020 1.000 2 2007 2019
dbSNP: rs10499563
rs10499563
STEAP1B
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10741657
rs10741657
CYP2R1
32 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs12447924
rs12447924
CETP
1 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12597002
rs12597002
CETP
1 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs12743824
rs12743824 		2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1572982
rs1572982
HFE
4 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17107315
rs17107315
SPINK1
39 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs1800206
rs1800206
PPARA
34 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
AGER
75 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
2 0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2228530
rs2228530
PPP1CB
1 1.000 2 28778825 missense variant A/C;G snv 0.010 1.000 1 2018 2018