Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs104894435
GCH1
0.882 0.120 14 54902341 missense variant C/T snv 3
rs41298442
GCH1
0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 3
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 3
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 3
rs104894434
GCH1
0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 2
rs367874223
TH
0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05 2
rs45471299
TH
1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 2
rs137852633
GCH1
1.000 0.040 14 54845799 missense variant G/C snv 1
rs1057516716
MIR4686 ; TH
1.000 0.040 11 2171774 frameshift variant -/G delins 1
rs201932766
MIR4686 ; TH
1.000 0.040 11 2171785 start lost A/G snv 8.2E-06 7.0E-06 1
rs1057516491
TH
1.000 0.040 11 2166689 frameshift variant C/- del 1
rs1057516712
TH
1.000 0.040 11 2167011 frameshift variant C/- del 1
rs1057516736
TH
1.000 0.040 11 2166632 splice donor variant C/T snv 1
rs1057516819
TH
1.000 0.040 11 2166001 splice donor variant C/T snv 1
rs1057516874
TH
1.000 0.040 11 2169855 splice acceptor variant CAATGAACCGCGGGGACTGTGGGGAC/- delins 1
rs1057517003
TH
1.000 0.040 11 2168489 splice donor variant A/G snv 1
rs1057517162
TH
1.000 0.040 11 2166530 frameshift variant G/- del 1
rs1057517423
TH
1.000 0.040 11 2167909 stop gained G/A snv 4.1E-06 1
rs1057519220
TH
1.000 0.040 11 2169670 stop gained G/A snv 4.0E-06 2.1E-05 1
rs1057520384
TH
1.000 0.040 11 2166003 missense variant G/A;T snv 5.9E-06; 5.9E-06 1
rs121917764
TH
1.000 0.040 11 2166762 missense variant G/A;C snv 7.0E-06 1
rs121917765
TH
1.000 0.040 11 2166544 missense variant C/A snv 1
rs1264884607
TH
1.000 0.040 11 2165679 missense variant C/T snv 2.0E-05 2.1E-05 1