Disease: Progressive cerebellar ataxia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4