Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398123339
ABCA4
0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 5
rs1057518767
ABCA4
0.851 0.120 1 94098874 missense variant A/T snv 4
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs777476179
ALMS1
0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 5
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs80338747
LRP2
0.925 0.320 2 169205630 missense variant A/G snv 1
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 2
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs121434621
OPN1LW
0.882 0.120 X 154154602 missense variant T/C snv 1
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 2