Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876661024 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs3024496 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 6
rs9527 10 102863821 3 prime UTR variant C/T snv 0.21 2
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs1540087 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 2
rs2278952 1.000 0.080 17 17582270 5 prime UTR variant G/A snv 5.4E-02 2
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs3790064
PNP
14 20472910 non coding transcript exon variant A/G;T snv 1
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
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72