Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555441595
FAH
1.000 0.120 15 80172242 missense variant T/G snv 1
rs1555441597
FAH
1.000 0.120 15 80172250 splice donor variant T/G snv 1
rs1555441703
FAH
1.000 0.120 15 80173142 frameshift variant C/- del 1
rs1555441852
FAH
1.000 0.120 15 80175022 frameshift variant -/TGGCCCCTGCC delins 1
rs1555441861
FAH
1.000 0.120 15 80175060 frameshift variant -/T delins 1
rs1555442289
FAH
1.000 0.120 15 80180122 splice acceptor variant A/C snv 1
rs1555442385
FAH
1.000 0.120 15 80181040 splice acceptor variant A/G snv 1
rs370634385
FAH
1.000 0.120 15 80175058 missense variant A/C snv 1.6E-05 2.8E-05 1
rs370686447
FAH
1.000 0.120 15 80168052 stop gained G/A;T snv 1.2E-05; 4.0E-06 1
rs533540262
FAH
1.000 0.120 15 80172238 missense variant C/A;T snv 4.0E-06; 1.6E-05 1
rs750741137
FAH
1.000 0.120 15 80173049 frameshift variant G/- delins 1
rs754196530
FAH
1.000 0.120 15 80172162 missense variant G/A snv 8.0E-06 2.1E-05 1
rs769550316
FAH
1.000 0.120 15 80173016 stop gained C/T snv 1.2E-05 2.1E-05 1
rs771712041
FAH
1.000 0.120 15 80172148 splice acceptor variant G/A;C snv 4.0E-06; 4.0E-06 1
rs772895065
FAH
1.000 0.120 15 80153137 splice donor variant T/A;C snv 1.2E-05 1
rs778387055
FAH
1.000 0.120 15 80168093 missense variant T/G snv 4.0E-06 1
rs779040832
FAH
1.000 0.120 15 80180188 missense variant C/T snv 1.6E-05; 4.5E-05 7.0E-06 1
rs779642226
FAH
1.000 0.120 15 80162319 frameshift variant T/- del 1.4E-05 1
rs781496816
FAH
1.000 0.120 15 80168116 stop gained C/T snv 4.0E-06 1
rs786204551
FAH
1.000 0.120 15 80186139 frameshift variant A/- del 1.4E-05 1
rs786204683
FAH
1.000 0.120 15 80158171 splice donor variant G/T snv 1
rs80338894
FAH
1.000 0.120 15 80158170 missense variant G/A;T snv 4.0E-06; 6.4E-05 1
rs80338895
FAH
1.000 0.120 15 80168263 splice acceptor variant G/C;T snv 1.5E-04 1
rs80338897
FAH
1.000 0.120 15 80172240 missense variant A/T snv 1
rs80338898
FAH
1.000 0.120 15 80173089 missense variant C/T snv 1.7E-04 5.6E-05 1