Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2070874
IL4
0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 27
rs6214
LINC02456 ; HELLPAR ; IGF1
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 17
rs2043556
PRKG1 ; MIR605
0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 17
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 14
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs6713088
ACYP2
0.763 0.200 2 54118332 intron variant C/G snv 0.48 9
rs6898743
GHR
0.776 0.160 5 42602390 intron variant C/G snv 0.78 9
rs11896604
ACYP2
0.776 0.200 2 54252062 intron variant C/A;G;T snv 8
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7
0.807 0.160 2 233682328 missense variant CG/AA mnv 8
rs879625015
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8
0.807 0.160 2 233682328 frameshift variant CG/A delins 8
rs771314938
UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7
0.807 0.160 2 233682328 frameshift variant CG/- del 8
rs843711
ACYP2
0.790 0.200 2 54251980 intron variant C/T snv 0.41 7
rs63750114
MLH1
0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 5
rs587778964
MLH1
0.882 0.160 3 37048604 missense variant A/C;T snv 4
rs1131341
NQO1
0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02 4
rs4751240
DOCK1
0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 3
rs17224367
MSH2
0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 3
rs63750006
MSH2
0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 3
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv 3
rs41526344
CNTN4
0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 2