Disease: Ataxia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15