Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 11
rs61755792
PRPH2
0.763 0.160 6 42721821 missense variant G/A;C snv 10
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 8
rs868349465
EYS
0.851 0.080 6 64388718 missense variant C/A;T snv 2.7E-05; 1.4E-05; 6.9E-06 2.1E-05 4
rs267607017
RP1L1
0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 4
rs1195312059
ERG
0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 3
rs1033920857
PROM1
0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 3
rs146434364
PROM1
0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05 3