Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434621
OPN1LW
0.882 0.120 X 154154602 missense variant T/C snv 1
rs80338747
LRP2
0.925 0.320 2 169205630 missense variant A/G snv 1
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs398123339
ABCA4
0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 5
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs61755771
PRPH2
0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 2
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 2
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2