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
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs6313 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1256049 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 32
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs2230806 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 24
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs63750231 0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs3851179 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 15
rs4684677 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 13
rs63750083 0.732 0.160 14 73219177 missense variant C/A;T snv 13