Disease: Generalized cerebral atrophy/hypoplasia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779411
CLN8
0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 5
rs143730802
CLN8
0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06 4