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
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
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
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 37
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs28934571
TP53
0.645 0.360 17 7674216 missense variant C/A;G snv 31
rs4898
TIMP1 ; SYN1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs6897932
IL7R
0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 25
rs12980275 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 23
rs12075
CADM3-AS1 ; ACKR1
0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 22
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22
rs10204525
PDCD1
0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 20
rs11554495
KRT8
0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 19
rs2596542
MICA-AS1 ; MICA
0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 18
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs2296651
SLC10A1
0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 13
rs9514828
TNFSF13B
0.752 0.440 13 108269025 intron variant C/T snv 0.35 12