Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs104894673
CRX
0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 8
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs74315328
MYOC ; MYOCOS
0.807 0.120 1 171636131 missense variant A/G snv 6
rs61752904
RPE65
0.925 0.120 1 68439033 stop gained T/A snv 7.0E-06 2
rs62636300
RPE65
0.925 0.120 1 68431328 missense variant T/C snv 4.0E-06 2