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: rs80356535
rs80356535
1.000 0.036 19 41970533 missense variant A/C snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.810 1.000 4 1993 2015
dbSNP: rs80356537
rs80356537
0.821 0.250 19 41970405 missense variant C/A,G,T snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 16 1993 2017
dbSNP: rs80356534
rs80356534
1.000 0.036 19 41978041 missense variant G/A snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 10 1993 2012
dbSNP: rs80356537
rs80356537
0.821 0.250 19 41970405 missense variant C/A,G,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 9 1993 2017
dbSNP: rs267606670
rs267606670
0.923 0.036 19 41968837 missense variant C/A,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 5 1993 2015
dbSNP: rs80356533
rs80356533
1.000 0.036 19 41985082 missense variant C/T snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 5 1993 2017
dbSNP: rs267606670
rs267606670
0.923 0.036 19 41968837 missense variant C/A,T snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 4 1993 2014
dbSNP: rs387907281
rs387907281
0.784 0.143 19 41970284 missense variant C/T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 4 1993 2014
dbSNP: rs80356536
rs80356536
1.000 0.036 19 41970468 missense variant A/G snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 4 1993 2007
dbSNP: rs398122887
rs398122887
0.821 0.143 19 41967744 missense variant C/G,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 3 1993 2017
dbSNP: rs80356532
rs80356532
0.923 0.036 19 41985090 missense variant A/G,T snp
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.800 3 1993 2007
dbSNP: rs387907282
rs387907282
0.923 0.036 19 41970296 missense variant A/G snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 2 1993 2012
dbSNP: rs80356532
rs80356532
0.923 0.036 19 41985090 missense variant A/G,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 2 1993 2014
dbSNP: rs534926223
rs534926223
1.000 19 41970490 missense variant G/C,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs536681257
rs536681257
0.923 0.071 19 41970298 missense variant A/C,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs542652468
rs542652468
1.000 19 41986177 missense variant G/A,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2014
dbSNP: rs549006436
rs549006436
0.923 0.036 19 41970389 missense variant A/C,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs557052809
rs557052809
1.000 19 41975629 missense variant C/A,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2013
dbSNP: rs606231427
rs606231427
1.000 19 41986168 missense variant T/A snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs606231428
rs606231428
1.000 19 41984946 missense variant A/T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs606231430
rs606231430
1.000 19 41982102 missense variant C/A snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs606231433
rs606231433
1.000 19 41981988 missense variant A/G snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs606231437
rs606231437
1.000 19 41970488 missense variant T/A,C snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012
dbSNP: rs606231444
rs606231444
1.000 19 41968824 missense variant C/A,T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 1993
dbSNP: rs606231446
rs606231446
1.000 19 41967719 missense variant G/T snp
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1 1993 2012