rs1057519429, CACNA1A

N. diseases: 15
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 1.000 1 2017 2017
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.807 0.240 19 13235666 missense variant C/G;T snv 0.010 1.000 1 2017 2017