Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs372513650
PROM1
4 15998489 splice acceptor variant C/G snv 3.0E-05 1.4E-05 1
rs373331232
PROM1
4 16023380 stop gained G/A;C snv 1.7E-05 1
rs567435284
CFAP410
21 44333137 missense variant C/A;G;T snv 4.1E-06; 5.4E-05 1
rs577932201
RPGRIP1
14 21325330 stop gained C/G;T snv 8.7E-06 1
rs61752419
ABCA4
1 94042786 stop gained C/T snv 1
rs746837034
USH2A
1 215648760 stop gained C/A;T snv 3.2E-05 1
rs750151209
CERKL
2 181548785 frameshift variant AT/- del 1.2E-05 1
rs757470958
CNGA3
2 98380207 stop gained G/A snv 4.0E-06 1.4E-05 1
rs758316679
ABHD12
20 25339350 stop gained G/A snv 2.0E-05 7.0E-06 1
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