Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516631
FAH
1.000 0.120 15 80186207 stop lost T/C;G snv 1
rs1297118863
FAH
1.000 0.120 15 80186159 missense variant G/A snv 1.2E-05 2.1E-05 1
rs786204551
FAH
1.000 0.120 15 80186139 frameshift variant A/- del 1.4E-05 1
rs1057516333
FAH
1.000 0.120 15 80186129 splice acceptor variant G/A snv 1
rs121965077
FAH
1.000 0.120 15 80181120 missense variant A/G snv 1
rs121965076
FAH
1.000 0.120 15 80181069 stop gained G/T snv 2.4E-05 2.1E-05 1
rs121965075
FAH
1.000 0.120 15 80181048 stop gained G/T snv 2.8E-05 7.7E-05 1
rs1555442385
FAH
1.000 0.120 15 80181040 splice acceptor variant A/G snv 1
rs80338901
FAH
1.000 0.120 15 80180230 missense variant G/A snv 3.7E-04 2.7E-04 1
rs970505762
FAH
1.000 0.120 15 80180190 missense variant G/A;T snv 1.2E-05 5.6E-05 1
rs779040832
FAH
1.000 0.120 15 80180188 missense variant C/T snv 1.6E-05; 4.5E-05 7.0E-06 1
rs80338900
FAH
1.000 0.120 15 80180172 missense variant G/A snv 7.2E-05 6.3E-05 1
rs886044640
FAH
1.000 0.120 15 80180126 stop gained C/A snv 7.0E-06 1
rs1555442289
FAH
1.000 0.120 15 80180122 splice acceptor variant A/C snv 1
rs1057517201
FAH
1.000 0.120 15 80177584 splice donor variant G/A snv 1
rs1555441861
FAH
1.000 0.120 15 80175060 frameshift variant -/T delins 1
rs370634385
FAH
1.000 0.120 15 80175058 missense variant A/C snv 1.6E-05 2.8E-05 1
rs1555441852
FAH
1.000 0.120 15 80175022 frameshift variant -/TGGCCCCTGCC delins 1
rs121965078
FAH
0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06 2
rs1555441703
FAH
1.000 0.120 15 80173142 frameshift variant C/- del 1
rs80338899
FAH
0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05 2
rs80338898
FAH
1.000 0.120 15 80173089 missense variant C/T snv 1.7E-04 5.6E-05 1
rs1057517436
FAH
1.000 0.120 15 80173083 frameshift variant TC/- delins 7.0E-06 1
rs750741137
FAH
1.000 0.120 15 80173049 frameshift variant G/- delins 1
rs769550316
FAH
1.000 0.120 15 80173016 stop gained C/T snv 1.2E-05 2.1E-05 1