rs1064794262, CACNA1A

N. diseases: 3
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.
Bulbar palsy
CUI: C4082299
Disease: Bulbar palsy
5 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0
Recurrent respiratory infections
CUI: C3806482
Disease: Recurrent respiratory infections
7 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0