Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516333
FAH
1.000 0.120 15 80186129 splice acceptor variant G/A snv 1
rs1057516408
FAH
1.000 0.120 15 80159878 splice donor variant G/A snv 4.0E-06 1
rs1057516631
FAH
1.000 0.120 15 80186207 stop lost T/C;G snv 1
rs1057516679
FAH
1.000 0.120 15 80162336 stop gained G/A;C snv 4.0E-06 1
rs1057516684
FAH
1.000 0.120 15 80168056 frameshift variant ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- delins 1
rs1057516934
FAH
1.000 0.120 15 80153056 start lost T/A snv 1
rs1057517084
FAH
1.000 0.120 15 80172151 frameshift variant T/-;TT delins 1
rs1057517113
FAH
1.000 0.120 15 80168087 frameshift variant C/- delins 1
rs1057517201
FAH
1.000 0.120 15 80177584 splice donor variant G/A snv 1
rs1057517341
FAH
1.000 0.120 15 80153066 frameshift variant C/- delins 1
rs1057517436
FAH
1.000 0.120 15 80173083 frameshift variant TC/- delins 7.0E-06 1
rs1057517972
FAH
1.000 0.120 15 80153055 start lost A/G snv 8.0E-06 1
rs121965073
FAH
1.000 0.120 15 80153101 missense variant A/G;T snv 8.0E-06; 2.8E-05 1
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06 1
rs121965075
FAH
1.000 0.120 15 80181048 stop gained G/T snv 2.8E-05 7.7E-05 1
rs121965076
FAH
1.000 0.120 15 80181069 stop gained G/T snv 2.4E-05 2.1E-05 1
rs121965077
FAH
1.000 0.120 15 80181120 missense variant A/G snv 1
rs121965078
FAH
0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06 1
rs1247460110
FAH
1.000 0.120 15 80158059 splice acceptor variant G/A;C snv 4.0E-06 1
rs1297118863
FAH
1.000 0.120 15 80186159 missense variant G/A snv 1.2E-05 2.1E-05 1
rs149052294
FAH
1.000 0.120 15 80173013 splice acceptor variant G/A;T snv 2.4E-05; 4.0E-06 1
rs1555440522
FAH
1.000 0.120 15 80159754 splice acceptor variant A/G snv 1
rs1555440603
FAH
1.000 0.120 15 80160408 splice acceptor variant A/G snv 1
rs1555441251
FAH
1.000 0.120 15 80168050 splice acceptor variant A/G snv 1
rs1555441272
FAH
1.000 0.120 15 80168149 splice donor variant TG/- delins 1