Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6318
HTR2C ; LOC105373313
0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs2074192
ACE2
0.827 0.160 X 15564667 intron variant C/T snv 0.40 9
rs78478128
G6PD
0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 7
rs7890572
IL1RAPL1
X 29622701 intron variant A/G snv 9.3E-02 6
rs763802417
NOX1
0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 5
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs1403543
AGTR2
1.000 0.040 X 116170939 intron variant G/A snv 0.48 2
rs1800321
OTC
X 38367350 missense variant A/G snv 0.19 0.26 2
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs1800206
PPARA
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs4818
COMT ; MIR4761
0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs133049
MRTFA
0.882 0.080 22 40635351 intron variant A/- delins 0.82 4
rs134557
C22orf31
22 29061594 intron variant A/G;T snv 0.84 1
rs174877
TANGO2
22 20057896 intron variant T/A;C snv 0.75 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs2823139 1.000 0.080 21 15204463 intron variant G/A snv 0.34 5
rs12627514 1.000 0.040 21 43339560 intergenic variant C/A;G;T snv 3
rs4818833
HSF2BP
21 43569666 intron variant A/G snv 2
rs1355489726
SLC19A1
21 45530902 missense variant G/A snv 7.7E-06 1
rs540209920
SLC19A1
21 45531673 missense variant G/A snv 4.0E-06 1
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54