Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs146170087
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		0.710 1.000 0 2018 2018
dbSNP: rs1057518942
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs113371321
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1135401746
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs121917762
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs150321966
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1553547838
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
0.724 0.480 3 132675342 missense variant T/C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554504684
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0