Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555975756
OTC
1.000 0.120 X 38401693 intron variant G/A snv 4
rs63751011 0.925 0.120 17 46010418 intron variant C/T snv 4
rs1557178535 0.851 0.120 X 154363633 intron variant A/T snv 4
rs62508613
PAH
0.925 0.120 12 102843629 intron variant C/T snv 7.0E-06 4
rs267608255 0.851 0.160 6 136845605 intron variant A/G snv 1.3E-04 6.3E-05 4
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 3
rs774925473 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 3
rs36212066 0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04 3
rs376155665 0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06 3
rs267607749 1.000 0.160 3 37008801 intron variant A/G snv 3
rs1177898071 0.925 0.240 11 47419927 intron variant T/C;G snv 3
rs368134354 0.925 0.080 5 148104940 intron variant G/A;C;T snv 3.3E-05; 4.1E-06; 8.3E-06 3
rs369973784
AGL
0.882 0.080 1 99916398 intron variant A/G snv 5.8E-05 5.6E-05 3
rs730882236 0.925 0.280 13 39699477 intron variant A/G snv 3
rs398123108 0.925 0.200 X 153743211 intron variant G/A;T snv 3
rs587779752 0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06 3
rs375952052 0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 3
rs778234759 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs367928692 0.882 0.200 10 71791123 intron variant G/A;T snv 4.9E-05; 4.4E-06 3
rs35378915 1.000 11 5249974 intron variant C/T snv 3
rs1553263326 1.000 1 156881446 intron variant G/A snv 2
rs16881446 0.925 0.040 4 11406961 intron variant T/C snv 0.27 2
rs397515893 0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06 2
rs201078659 0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05 2
rs113994102 0.925 0.160 18 79710825 intron variant C/T snv 2