Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs6467 0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03 2
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 1
rs606231364
FAS
0.925 0.160 10 89003071 missense variant G/A snv 1
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 1
rs10993994 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 1
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs121908689 0.925 0.120 1 46272758 missense variant T/A snv 1
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1