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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs689466 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs9350 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 16
rs17568 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 12
rs201765376
MTR
0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 12
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
rs142648132
MTR
0.827 0.160 1 236816521 missense variant G/A;C;T snv 8.4E-04; 2.4E-05 5
rs10900598 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 4
rs762403278 0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 4
rs2742976 0.882 0.240 1 23531510 upstream gene variant T/A;G snv 3
rs3218123 0.925 0.120 1 23531364 upstream gene variant C/A;G snv 2
rs3862188 1.000 0.040 1 247702471 intron variant T/C snv 0.44 2
rs1034220998 1.000 0.040 1 6339497 synonymous variant G/A snv 1
rs201613442 1.000 0.040 1 74540276 missense variant G/A snv 4.0E-06 1
rs3218148 1.000 0.040 1 23525295 intron variant G/A;C;T snv 1
rs3218203 1.000 0.040 1 23511068 intron variant C/A;G snv 1
rs3218211 1.000 0.040 1 23509302 3 prime UTR variant A/G snv 0.48 1