Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1518111 0.790 0.360 1 206771300 intron variant T/C snv 0.71 9
rs1676486 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 7
rs1518110 0.851 0.160 1 206771516 intron variant A/C;T snv 5
rs2651899 0.882 0.040 1 3167148 intron variant T/A;C snv 5
rs12134493 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 4
rs1050316 1 156464911 3 prime UTR variant G/T snv 0.54 3
rs12740679 1 150289855 upstream gene variant C/G snv 0.25 1
rs2036465 1 39110310 intron variant A/C;G snv 1
rs3748784 1 96721618 upstream gene variant A/C;G snv 0.55 1
rs56304645 1 3168622 intron variant C/T snv 0.25 1
rs7555006 1 51014586 intergenic variant A/G snv 0.48 1
rs267607261 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs387906686 0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs2362290 2 233916724 upstream gene variant G/A snv 0.40 1
rs34097149 3 154545386 intergenic variant T/C snv 2.0E-02 1
rs867770797 0.851 0.200 4 147519875 missense variant G/A snv 8
rs2530223 1.000 0.080 5 141634927 synonymous variant T/C snv 0.62 0.68 2
rs1799971 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs6296 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 23
rs9349379 0.732 0.200 6 12903725 intron variant A/G snv 0.32 19
rs2072806 1.000 0.040 6 26384865 intron variant C/G snv 7.7E-02 2
rs130060 6 77463033 missense variant A/C;G snv 9.9E-03; 4.0E-06 1
rs8192573 6 32201219 missense variant C/G;T snv 1.6E-02 1
rs9267835 6 32212846 missense variant C/A snv 1.1E-02 1.8E-02 1