Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs1057518767
ABCA4
0.851 0.120 1 94098874 missense variant A/T snv 4
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 2
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
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs777476179
ALMS1
0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 5
rs1555302200
RPGRIP1
0.925 0.120 14 21326029 frameshift variant -/TT delins 4
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs398123339
ABCA4
0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 5
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33