rs1057519429, CACNA1A

N. diseases: 3
Source: BEFREE ×
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
64 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
51 0.807 0.240 19 13235666 missense variant C/G;T snv 0.710 1.000 1 2017 2017
Ataxia
CUI: C0004134
Disease: Ataxia
52 0.807 0.240 19 13235666 missense variant C/G;T snv 0.010 1.000 1 2017 2017