Disease: DYSTONIA 12 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.810 1.000 14 2004 2016
dbSNP: rs80356535
rs80356535 		1.000 0.040 19 41970533 missense variant A/C snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.810 1.000 4 2004 2014
dbSNP: rs80356534
rs80356534 		0.925 0.040 19 41978041 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.800 1.000 8 2004 2014
dbSNP: rs80356533
rs80356533 		1.000 0.040 19 41985082 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.800 1.000 5 2004 2010
dbSNP: rs80356532
rs80356532 		0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.800 1.000 3 2004 2009
dbSNP: rs80356536
rs80356536 		1.000 0.040 19 41970468 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.800 1.000 3 2004 2009
dbSNP: rs387907281
rs387907281 		0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.710 1.000 6 2012 2018
dbSNP: rs1064797245
rs1064797245 		0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 6 2015 2018
dbSNP: rs398122887
rs398122887 		0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 6 2012 2015
dbSNP: rs267606670
rs267606670 		0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 5 2009 2014
dbSNP: rs549006436
rs549006436 		0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 3 2012 2015
dbSNP: rs557052809
rs557052809 		0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs587777771
rs587777771 		0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs606231435
rs606231435 		0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1555859571
rs1555859571 		1.000 0.040 19 41970398 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1568853466
rs1568853466 		1.000 0.040 19 41969446 missense variant C/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs387907282
rs387907282 		0.925 0.040 19 41970296 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs397515382
rs397515382 		1.000 0.040 19 41966938 inframe insertion -/TAG delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs397515577
rs397515577 		1.000 0.040 19 41976459 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs397515578
rs397515578 		1.000 0.040 19 41984930 inframe deletion CAG/- delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs573535377
rs573535377 		1.000 0.040 19 41981991 missense variant G/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs606231442
rs606231442 		0.925 0.040 19 41969523 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs606231448
rs606231448 		1.000 0.040 19 41981956 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs606231449
rs606231449 		1.000 0.040 19 41981774 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0
dbSNP: rs869320661
rs869320661 		1.000 0.040 19 41984965 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		Nervous System Diseases 0.700 0