Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3764880 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 11
rs2106809 0.827 0.120 X 15599938 intron variant A/G snv 0.19 8
rs114209171 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 5
rs762890235 0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06 5
rs6632677 0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 4
rs2801231 1.000 0.080 X 122083259 intergenic variant T/A;C;G snv 2
rs2897827 1.000 0.080 X 12865427 upstream gene variant C/T snv 7.2E-02 1
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs2228314 0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 8
rs4044210 0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17 3
rs6007897 0.925 0.080 22 46384624 missense variant T/C snv 0.16 0.28 3
rs6151425 0.925 0.160 22 50625640 missense variant G/A;C;T snv 3.4E-02 2
rs2240183 1.000 0.080 22 30966153 intron variant C/T snv 0.40 1
rs5752326 1.000 0.080 22 26448024 intron variant C/G;T snv 1
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs767649 0.695 0.480 21 25572410 intron variant T/A snv 7.5E-02 18
rs2834167 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 11
rs57137919 0.776 0.160 21 42218908 intron variant G/A snv 0.14 9
rs9722 0.776 0.200 21 46599326 3 prime UTR variant G/A snv 0.16; 2.4E-05 0.21 9
rs12659 0.925 0.120 21 45531642 synonymous variant A/G snv 0.58 0.57 2
rs1378577 1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33 2
rs999788 0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20 2
rs117440128 1.000 0.080 21 35801864 intron variant G/A snv 6.2E-03 1
rs2825226 1.000 0.080 21 18909856 intergenic variant G/A snv 0.27 1