Disease: Dystonia Disorders
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs397514477
C19orf12
0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 5
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs11655081
ARSG
0.851 0.080 17 68386068 intron variant T/C snv 0.18 7
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs34015634
LRRK2
0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8
rs374512193
THAP1
0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 4
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4