Disease: Cerebellar atrophy
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14