Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1003869920
USH2A
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06 2
rs1035024403
USH2A
0.882 0.200 1 216048648 splice acceptor variant C/T snv 7.0E-06 3
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 3
rs104893769
RHO
0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06 2
rs104893772
RHO
0.925 0.080 3 129528999 missense variant G/A;C snv 2
rs104893773
RHO
0.882 0.080 3 129529049 missense variant G/A;T snv 1.6E-05 2
rs104893774
RHO
0.925 0.080 3 129530918 missense variant G/A;T snv 8.0E-06 1
rs104893775
RHO
0.807 0.160 3 129530917 missense variant C/T snv 3
rs104893776
RHO
0.925 0.080 3 129532253 missense variant A/G snv 2
rs104893779
RHO
0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06 2
rs104893781
RHO
0.882 0.080 3 129532636 missense variant C/T snv 2
rs104893783
RHO
0.925 0.080 3 129532581 stop gained G/A;T snv 4.0E-06; 2.0E-05 1
rs104893786
RHO
0.882 0.080 3 129528777 missense variant A/G snv 2
rs104893787
RHO
0.882 0.080 3 129529062 missense variant G/A snv 1
rs104893790
RHO
0.851 0.080 3 129529002 missense variant G/A snv 1
rs104893791
RHO
0.851 0.080 3 129530962 missense variant G/A;C snv 4.8E-05; 1.6E-05 2
rs104893793
RHO
0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 4
rs104893794
RHO
0.925 0.080 3 129531025 missense variant C/T snv 4.0E-06 2
rs104893967
GUCA1A
0.827 0.080 6 42178374 missense variant A/G snv 3
rs104894082
RP1
0.882 0.080 8 54625911 stop gained C/T snv 1
rs104894178
PHYH
0.882 0.160 10 13283695 missense variant G/A snv 1.9E-04 7.0E-05 3
rs104894373
RDH5 ; BLOC1S1-RDH5
0.851 0.080 12 55721908 missense variant T/G snv 8.1E-06 2
rs104894459
NRL
0.882 0.080 14 24082701 missense variant A/T snv 1
rs104894474
RDH12 ; GPHN
0.882 0.080 14 67726086 stop gained G/T snv 2
rs104894475
GPHN ; RDH12
0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06 2