Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517972
FAH
1.000 0.120 15 80153055 start lost A/G snv 8.0E-06 1
rs1057516934
FAH
1.000 0.120 15 80153056 start lost T/A snv 1
rs1057517341
FAH
1.000 0.120 15 80153066 frameshift variant C/- delins 1
rs121965073
FAH
1.000 0.120 15 80153101 missense variant A/G;T snv 8.0E-06; 2.8E-05 1
rs772895065
FAH
1.000 0.120 15 80153137 splice donor variant T/A;C snv 1.2E-05 1
rs1247460110
FAH
1.000 0.120 15 80158059 splice acceptor variant G/A;C snv 4.0E-06 1
rs80338894
FAH
1.000 0.120 15 80158170 missense variant G/A;T snv 4.0E-06; 6.4E-05 1
rs786204683
FAH
1.000 0.120 15 80158171 splice donor variant G/T snv 1
rs1555440522
FAH
1.000 0.120 15 80159754 splice acceptor variant A/G snv 1
rs1057516408
FAH
1.000 0.120 15 80159878 splice donor variant G/A snv 4.0E-06 1
rs1555440603
FAH
1.000 0.120 15 80160408 splice acceptor variant A/G snv 1
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06 1
rs779642226
FAH
1.000 0.120 15 80162319 frameshift variant T/- del 1.4E-05 1
rs1057516679
FAH
1.000 0.120 15 80162336 stop gained G/A;C snv 4.0E-06 1
rs1555441251
FAH
1.000 0.120 15 80168050 splice acceptor variant A/G snv 1
rs370686447
FAH
1.000 0.120 15 80168052 stop gained G/A;T snv 1.2E-05; 4.0E-06 1
rs1057516684
FAH
1.000 0.120 15 80168056 frameshift variant ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- delins 1
rs1057517113
FAH
1.000 0.120 15 80168087 frameshift variant C/- delins 1
rs778387055
FAH
1.000 0.120 15 80168093 missense variant T/G snv 4.0E-06 1
rs781496816
FAH
1.000 0.120 15 80168116 stop gained C/T snv 4.0E-06 1
rs1555441272
FAH
1.000 0.120 15 80168149 splice donor variant TG/- delins 1
rs80338895
FAH
1.000 0.120 15 80168263 splice acceptor variant G/C;T snv 1.5E-04 1
rs771712041
FAH
1.000 0.120 15 80172148 splice acceptor variant G/A;C snv 4.0E-06; 4.0E-06 1
rs1057517084
FAH
1.000 0.120 15 80172151 frameshift variant T/-;TT delins 1
rs754196530
FAH
1.000 0.120 15 80172162 missense variant G/A snv 8.0E-06 2.1E-05 1