Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052017
PAH
0.925 0.120 12 102852922 missense variant CA/TG mnv 3
rs199475567
PAH
1.000 0.120 12 102912791 missense variant C/A;T snv 2
rs199475572
PAH
1.000 0.120 12 102877475 missense variant T/A;C snv 2
rs62508577
PAH
1.000 0.120 12 102855150 missense variant G/A snv 2
rs62508721
PAH
1.000 0.120 12 102855222 missense variant T/C snv 2
rs79635844
PAH
1.000 0.120 12 102866623 missense variant A/G snv 2
rs199475630
PAH
12 102912804 missense variant A/G snv 1
rs62507283
PAH
12 102852941 missense variant C/A;G;T snv 1
rs79931499
PAH
1.000 0.120 12 102840477 missense variant C/G;T snv 4.0E-06; 5.6E-05 2
rs1445893088
PAH
1.000 0.120 12 102840468 missense variant G/T snv 4.0E-06 2
rs62514903
PAH
0.925 0.120 12 102894812 missense variant G/A snv 4.0E-06 1.4E-05 3
rs62642932
PAH
1.000 0.120 12 102852882 missense variant C/T snv 4.0E-06 2
rs62508698
PAH
1.000 0.120 12 102852819 missense variant C/G;T snv 4.0E-06; 5.6E-05 2
rs5030847
PAH
1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06 2
rs199475658
PAH
1.000 0.120 12 102843646 missense variant C/G;T snv 4.0E-06 2
rs62507329
PAH
1.000 0.120 12 102843761 missense variant G/A;T snv 4.0E-06 2
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 10
rs5030843
PAH
1.000 0.120 12 102866632 missense variant C/G;T snv 8.0E-06; 9.2E-05 2
rs76542238
PAH
1.000 0.120 12 102839194 missense variant G/T snv 8.0E-06 1.4E-05 2
rs773526027
PAH
1.000 0.120 12 102840497 missense variant T/C snv 1.2E-05 2.1E-05 2
rs62514927
PAH
1.000 0.120 12 102855231 missense variant T/C snv 1.2E-05 7.0E-06 2
rs199475663
PAH
0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05 3
rs62516103
PAH
1.000 0.120 12 102843662 missense variant C/G snv 2.0E-05 7.0E-06 2
rs76212747
PAH
0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05 3
rs76296470
PAH
1.000 0.120 12 102894756 stop gained G/A snv 2.8E-05 4.2E-05 2