Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs45471299
TH
1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 2
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 3
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 3
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv 3
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv 2
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4