Disease: Liver diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42
rs1137100
LEPR
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs12980275 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 23
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs2281135
PNPLA3
0.851 0.160 22 43936690 intron variant G/A snv 0.19 10
rs236918
PCSK7
0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 10
rs4374383
MERTK
0.776 0.200 2 112013193 intron variant A/G snv 0.58 10
rs3480
FNDC5
0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 8
rs2070666
APOC3
0.882 0.120 11 116830958 intron variant T/A;C snv 4
rs2294918
PNPLA3
0.925 0.040 22 43946236 missense variant A/G snv 0.68 0.70 3