Disease: Dystonia Disorders
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs775863165
HPCA
1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 3
rs786205675
HPCA
1.000 0.080 1 32889123 missense variant C/A snv 3
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
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
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2