Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 32
rs6713088
ACYP2
0.763 0.200 2 54118332 intron variant C/G snv 0.48 9
rs11896604
ACYP2
0.776 0.200 2 54252062 intron variant C/A;G;T snv 8
rs843711
ACYP2
0.790 0.200 2 54251980 intron variant C/T snv 0.41 7
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs41526344
CNTN4
0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 2
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 14
rs4751240
DOCK1
0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 3
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs6898743
GHR
0.776 0.160 5 42602390 intron variant C/G snv 0.78 9
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs2070874
IL4
0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 27
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs6214
LINC02456 ; HELLPAR ; IGF1
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs2292832
MIR149 ; GPC1 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46