Disease: Dystonia Disorders
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
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
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs34015634
LRRK2
0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272