Disease: obsolete Rod-cone dystrophy
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6