Disease: Low Vision
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4