Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs121964962
CBS
0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 5
rs121964972
CBS
0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 5
rs121964964
CBS
0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 4
rs121964973
CBS
0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05 4
rs28934891
CBS
0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 4
rs398123151
CBS
0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05 4
rs1347651454
CBS
0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06 3
rs1361324844
CBS
0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06 3
rs771298943
CBS
0.882 0.160 21 43062311 missense variant C/A;T snv 3
rs778220779
CBS
0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05 3
rs148865119
CBS
0.925 0.160 21 43072048 missense variant G/A;C snv 1.5E-04; 4.0E-06 2
rs372010465
CBS
0.925 0.160 21 43060475 missense variant C/G;T snv 8.1E-06 2
rs757428597
CBS
0.925 0.160 21 43063992 splice acceptor variant C/A;G snv 8.3E-06 2
rs760417941
CBS
0.925 0.160 21 43062343 missense variant C/A;T snv 1.2E-05 2
rs763290176
CBS
0.925 0.160 21 43063899 splice donor variant C/T snv 8.1E-06 2
rs766453711
CBS
0.925 0.160 21 43063990 splice acceptor variant C/- delins 4.1E-06 2
rs775351239
CBS
0.925 0.160 21 43065250 frameshift variant A/- del 4.0E-06 1.7E-05 2
rs779270933
CBS
0.925 0.160 21 43063003 missense variant C/T snv 4.0E-06 2
rs781444670
CBS
0.925 0.160 21 43066320 missense variant C/T snv 8.0E-06 2
rs786204757
CBS
0.925 0.160 21 43068523 missense variant A/G snv 2
rs794727835
CBS
0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 2
rs1568932835
CBS
1.000 21 43065523 splice acceptor variant T/C snv 1