Disease: Cortical visual impairment
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26