Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12134493 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 4
rs10774231 12 4406208 downstream gene variant T/C snv 0.51 1
rs12740679 1 150289855 upstream gene variant C/G snv 0.25 1
rs34097149 3 154545386 intergenic variant T/C snv 2.0E-02 1
rs4941139 18 62495558 intergenic variant T/C snv 0.31 1
rs7555006 1 51014586 intergenic variant A/G snv 0.48 1
rs9490318 6 121539061 downstream gene variant C/T snv 0.16 1
rs3761422 1.000 0.040 22 24430704 intron variant T/C snv 0.62 4
rs864321670 0.763 0.320 10 95633012 missense variant C/T snv 24
rs17220352 9 116485780 intron variant A/G snv 0.21 1
rs56349329 11 46673933 3 prime UTR variant G/A snv 0.14 1
rs606231435 0.827 0.240 19 41970539 missense variant C/T snv 18
rs1555639076 0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs80359473 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs2072806 1.000 0.040 6 26384865 intron variant C/G snv 7.7E-02 2
rs2895526 10 12684062 intron variant T/A;G snv 1
rs375817528 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs797045032 0.827 0.280 7 143321720 missense variant GG/TC mnv 11
rs1676486 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 7
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1178187217 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs6275 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 7
rs867770797 0.851 0.200 4 147519875 missense variant G/A snv 8