Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1380576 0.763 0.240 1 204519150 intron variant G/C snv 0.57 10
rs11801299 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 9
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs70991108 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs1059234 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 10
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs759338099 0.925 0.160 7 92833212 missense variant G/C snv 4.1E-06 2
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs1290923018 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 5
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs769412 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 6
rs587779349 0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs587776783 0.851 0.200 13 48373493 splice donor variant G/A snv 5