Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs758705873
USH2A ; LOC105372918
1 216200111 stop gained G/A;T snv 1.6E-05 1
rs759025536
LRP2
2 169185615 missense variant C/A;T snv 8.0E-06 1
rs760430056
CNGB1
16 57904824 frameshift variant C/-;CC delins 1
rs761440783
FAM161A
2 61839540 stop gained C/A;T snv 8.0E-06; 1.2E-05 1
rs762078182
PROM1
4 15994057 frameshift variant T/-;TT delins 1
rs764163418
EYS
6 65384474 frameshift variant T/-;TT delins 1
rs765129639
RP1
8 54625380 frameshift variant AT/- del 1.6E-05 2.1E-05 1
rs767295178
IQCB1
3 121770503 frameshift variant -/TGCCACA delins 2.4E-05 7.0E-06 1
rs768660614
IMPG2
3 101320304 frameshift variant -/T delins 4.0E-06 1
rs769156393
RP1
8 54622243 stop gained C/T snv 1
rs771450991
CRX
19 47836261 missense variant G/A snv 1.2E-05 1
rs773233587
CRB1
1 197421540 missense variant A/C snv 4.0E-06 1
rs776757706
ABCA4
1 94014688 stop gained C/T snv 4.0E-06 1
rs778612831
COL18A1
21 45488416 splice acceptor variant A/G snv 4.0E-06 7.0E-06 1
rs782215106
RBP3
10 47348733 missense variant C/A;T snv 4.0E-06; 3.2E-05 1
rs782469310
RBP3
10 47349721 missense variant C/G;T snv 4.0E-06; 4.0E-06 1
rs786205663
DRAM2
1 111124856 inframe deletion CGAACATAA/- delins 1
rs869312183
TOPORS
9 32541986 stop gained G/A snv 1
rs869312184
ABCA4
1 94048898 frameshift variant C/- delins 1
rs869312185
RPGR
X 38287071 stop gained G/C snv 1
rs869312186
USH2A
1 216190298 stop gained C/A;G snv 4.0E-06 1
rs869312187
PRPF31
19 54128351 stop gained C/A;T snv 1
rs869312188
PHF3 ; EYS
6 63720752 frameshift variant -/CC delins 1
rs878853326
RP1
8 54626631 stop gained C/T snv 1
rs878853327
RP1
8 54625344 frameshift variant G/- del 1