Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800728 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 8
rs778234759 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs137852834 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 12
rs777103184 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 6
rs62636273 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 3
rs267606875 0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05 2
rs1555801963
CRX
1.000 0.040 19 47839362 stop gained C/T snv 1
rs61749455 0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 1
rs61755814 1.000 0.040 6 42704478 stop gained G/A snv 1
rs61751374 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 8
rs1800553 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 7
rs61750641 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 7
rs137853006 0.776 0.080 4 16013299 missense variant G/A snv 6
rs1553348960 0.882 0.080 2 55870851 missense variant A/G snv 5
rs61751392 0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 5
rs751163782 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 5
rs201471607 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 4
rs62625014 0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 4
rs104893967 0.827 0.080 6 42178374 missense variant A/G snv 3
rs104893968 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 3
rs61751402 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 3
rs61755793 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 3
rs62635654 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 3
rs121434491 0.752 0.200 2 55871091 missense variant G/A snv 2
rs281865239 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 2