Disease: Dystonia Disorders
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs374512193
THAP1
0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 4
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs11655081
ARSG
0.851 0.080 17 68386068 intron variant T/C snv 0.18 7