Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs3136558 1.000 2 112833698 intron variant A/G snv 0.21 4
rs3786054 0.882 0.080 17 5435739 intron variant G/A snv 0.19 3
rs28454025 1.000 8 8347928 intron variant A/G snv 1
rs524991 1.000 1 60864031 intron variant G/A snv 5.0E-02 1
rs1801274 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 46
rs121434431 0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04 4
rs17847825 1.000 7 106868886 missense variant C/A;T snv 0.11 1
rs7629263 1.000 3 187075635 missense variant C/A;G;T snv 4.0E-06; 6.8E-05; 3.9E-02 1
rs774024297 1.000 9 117712537 missense variant A/G;T snv 4.0E-06; 4.0E-06 1
rs1129293 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 3
rs2230460 0.925 0.040 7 106884244 synonymous variant C/T snv 0.12 8.5E-02 2
rs333 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 23
rs12252 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 23
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2564978 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 6
rs1818879 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 7