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: rs1131691940
rs1131691940
1.000 19 41982096 missense variant G/A;T snv 8.0E-06
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 0
dbSNP: rs1135401821
rs1135401821
1.000 0.240 19 41986127 missense variant T/C snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.700 0
dbSNP: rs1135401822
rs1135401822
1.000 0.240 19 41975668 missense variant C/A 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: 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
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
Delayed speech and language development
0.700 0
dbSNP: rs267606670
rs267606670
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0234518
Disease: Slurred speech
Slurred speech
0.700 0
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
0.700 0
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
0.700 0
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
0.700 0
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.700 0
dbSNP: rs387907281
rs387907281
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs387907282
rs387907282
0.925 0.040 19 41970296 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
0.700 0