Source: CLINVAR

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: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.710 1.000 7 1991 2014
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: rs80338892
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 7 1998 2015
dbSNP: rs104893665
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 5 2001 2013
dbSNP: rs771610752
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 3 2010 2017
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
11 2171856 5 prime UTR variant C/T snv 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 2 2007 2011
dbSNP: rs80358233
rs80358233
TOR1A
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 2 1997 1998
dbSNP: rs121917747
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2006 2006
dbSNP: rs139455627
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs531630376
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2014 2014
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs879253799
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
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