Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10119 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 5
rs59007384 0.851 0.080 19 44893408 intron variant G/A;T snv 4
rs157581 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 3
rs2075650 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 45
rs11556510 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 1
rs7354779 0.827 0.200 21 44250887 missense variant T/C snv 0.21 6
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs3747742 0.882 0.080 6 41194780 missense variant T/C snv 0.33 0.29 3
rs9357347 0.851 0.080 6 41182853 intergenic variant A/C;T snv 4
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs10407447 1.000 0.040 19 40363275 intron variant A/G snv 0.20 1
rs11667768 1.000 0.040 19 40348525 5 prime UTR variant C/T snv 6.3E-02 0.11 1
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs1187120 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 3
rs227959 1.000 0.040 17 3406923 upstream gene variant C/T snv 1
rs9527025
KL
1.000 0.040 13 33054056 missense variant G/C;T snv 0.14 1
rs1207568
KL
0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 3
rs104894103 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 6
rs1130399 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 1
rs35445101 0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02 2
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs2534672 1.000 0.040 6 31497781 intron variant G/C snv 0.32 1
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1451603364 0.925 0.120 11 27658411 missense variant C/T snv 4.0E-06 2