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
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
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 25
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67 19
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs3747093
YDJC
0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs198851
H4C3
6 26104404 downstream gene variant T/A;C;G snv 15
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs13331259
FAM234A
16 249924 intron variant A/G snv 3.0E-02 14
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs28601761 1.000 0.040 8 125487789 intron variant C/G snv 0.37 13
rs58658771 0.776 0.080 15 32709533 intergenic variant T/A snv 0.20 13