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: rs397515382
rs397515382
1.000 0.040 19 41966938 inframe insertion -/TAG delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 0
dbSNP: rs606231447
rs606231447
1.000 19 41967288 missense variant C/A;G;T snv 4.0E-06
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1.000 0 2012 2016
dbSNP: rs606231446
rs606231446
1.000 19 41967719 missense variant G/T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1.000 0 2012 2016
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 6 2012 2015
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.700 0
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
0.700 0
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 1.000 0 2012 2016
dbSNP: rs398122887
rs398122887
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.700 0
dbSNP: rs606231445
rs606231445
1.000 19 41968823 missense variant G/A;C snv 4.0E-06
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 0
dbSNP: rs606231444
rs606231444
1.000 19 41968824 missense variant C/A;T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 0
dbSNP: rs1555859157
rs1555859157
1.000 19 41968833 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 27 1988 2017
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 1.000 5 2009 2014
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C4022010
Disease: Maternal seizures
Maternal seizures
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0013421
Disease: Dystonia
Dystonia
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0266039
Disease: Taurodontism
Taurodontism
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0457756
Disease: Tooth absent
Tooth absent
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0