Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17782313 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 34
rs1260333 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 12
rs2001945 8 125465736 upstream gene variant G/A;C;T snv 10
rs7350481 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 8
rs10808546 8 125483576 intron variant C/T snv 0.39 7
rs6982502 0.882 0.080 8 125467120 intron variant C/T snv 0.62 6
rs1558861 11 116736721 regulatory region variant C/G;T snv 5
rs633389 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 4
rs9644568 8 20071071 intergenic variant G/A snv 0.11 3
rs11634397 1.000 0.080 15 80139880 downstream gene variant A/G snv 0.57 2
rs1263163 11 116802796 intergenic variant G/A snv 0.10 2
rs7016880 8 20019235 intergenic variant G/C snv 8.5E-02 2
rs4635554 2 21166787 intergenic variant T/G snv 0.37 1
rs1378577
ABCG1
1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33 2
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14 9
rs12453407
ACACA
17 37232521 intron variant A/G snv 0.65 1
rs1266175
ACACA
17 37111115 intron variant A/G snv 0.54 1
rs2229416
ACACA
17 37252940 synonymous variant C/T snv 0.18 0.12 1
rs9906543
ACACA
17 37162308 intron variant T/A;C snv 1
rs2241220
ACACB
1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 2
rs759009903
ACE
17 63484413 missense variant C/G;T snv 1.6E-05 1
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1800588
ALDH1A2 ; LIPC
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 16
rs2074379
ALPK1
1.000 4 112431743 missense variant G/A snv 0.62 0.65 3