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: rs587777771
rs587777771 		0.851 0.240 19 41970275 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.870 1.000 8 2014 2019
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: rs80356537
rs80356537 		0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 6 2012 2016
dbSNP: rs398122887
rs398122887 		0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs534926223
rs534926223 		1.000 19 41970490 missense variant G/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs536681257
rs536681257 		0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs542652468
rs542652468 		0.882 19 41986177 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs549006436
rs549006436 		0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs557052809
rs557052809 		0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231427
rs606231427 		1.000 19 41986168 missense variant T/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231428
rs606231428 		1.000 19 41984946 missense variant A/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231430
rs606231430 		1.000 19 41982102 missense variant C/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231433
rs606231433 		1.000 19 41981988 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231437
rs606231437 		1.000 19 41970488 missense variant T/A;C snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231446
rs606231446 		1.000 19 41967719 missense variant G/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs606231447
rs606231447 		1.000 19 41967288 missense variant C/A;G;T snv 4.0E-06
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs80356532
rs80356532 		0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
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: rs606231435
rs606231435 		0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.720 1.000 2 2012 2018
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: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 5 2015 2018