rs786200962, CACNA1A

N. diseases: 7
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.
Downbeat nystagmus
CUI: C0585544
Disease: Downbeat nystagmus
2 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
9 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Mental impairment
CUI: C0683322
Disease: Mental impairment
14 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015