Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28357984
ND2 ; COX1
0.851 0.160 MT 5178 missense variant C/A snv 6
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs2228314 0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 8
rs1007888 0.882 0.120 22 23898914 non coding transcript exon variant C/T snv 0.46 4
rs1369837875 0.882 0.200 22 38128276 synonymous variant G/A snv 4
rs1883112 0.851 0.200 22 36860804 intron variant G/A snv 0.39 4
rs7291467 0.851 0.160 22 37576621 intron variant G/A snv 0.49 4
rs10304 0.925 0.120 22 31104550 3 prime UTR variant G/A snv 0.12 2
rs180803 0.925 0.080 22 24262890 intron variant G/A;T snv 2
rs1548357 1.000 0.080 22 19890839 intron variant T/C;G snv 1
rs178293 1.000 0.080 22 20995290 non coding transcript exon variant C/T snv 0.11 1
rs2073746 1.000 0.080 22 19991035 intron variant T/C snv 0.80 1
rs2236030 1.000 0.080 22 50460881 intron variant G/A snv 6.8E-02 1
rs2331291 1.000 0.080 22 26662857 intron variant C/T snv 0.11 1
rs4253623 1.000 0.080 22 46154203 intron variant A/G snv 0.11 1
rs5753472 1.000 0.080 22 31137239 intron variant G/A snv 0.55 1
rs906083004 1.000 0.080 22 41894828 missense variant A/G snv 4.0E-06 2.8E-05 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs57137919 0.776 0.160 21 42218908 intron variant G/A snv 0.14 9
rs1041740 0.807 0.320 21 31667849 intron variant C/T snv 0.24 8
rs10432782 0.807 0.160 21 31664078 intron variant T/G snv 0.19 7
rs9982601 0.851 0.080 21 34226827 intron variant C/T snv 0.15 4
rs28451064 0.925 0.080 21 34221526 intron variant G/A snv 9.2E-02 3
rs9974610 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 3