Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 6
rs281865377
ABCA4
0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 6
rs1553348960
LOC112268416 ; EFEMP1
0.882 0.080 2 55870851 missense variant A/G snv 5
rs398124615
CRB1
0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 5
rs875989778
RAB28
0.882 0.040 4 13479429 splice donor variant C/G snv 5
rs104893967
GUCA1A
0.827 0.080 6 42178374 missense variant A/G snv 3
rs1553515435
CERKL
0.925 0.040 2 181566055 splice region variant T/C snv 3
rs778234759
ABCA4
0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 3
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 2
rs1553196583
ABCA4
0.925 0.040 1 94111453 frameshift variant T/- delins 2
rs1554604767
CNGB3
0.925 0.120 8 86578688 splice donor variant C/T snv 2
rs281865255
BEST1 ; LOC107984334
0.925 0.080 11 61959517 missense variant A/G snv 2
rs61755792
PRPH2
0.763 0.160 6 42721821 missense variant G/A;C snv 2
rs724159985
CDH3
0.925 0.160 16 68679936 frameshift variant G/- delins 2
rs1201356843
CRB1
1.000 0.040 1 197477799 missense variant C/A;T snv 1
rs1553192682
ABCA4
1.000 0.040 1 94063115 missense variant T/C snv 1
rs1553195472
ABCA4
1.000 0.040 1 94098843 missense variant A/C snv 1
rs1553260321
CRB1
1.000 0.040 1 197421257 frameshift variant G/- delins 1
rs1555801963
CRX
1.000 0.040 19 47839362 stop gained C/T snv 1
rs1555961220
RPGR
1.000 0.040 X 38285546 missense variant C/A snv 1
rs1556313414
RP2
1.000 0.040 X 46837109 inframe deletion TCT/- delins 1
rs61755814
PRPH2
1.000 0.040 6 42704478 stop gained G/A snv 1
rs61749455
ABCA4
0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 1
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 3
rs104893968
GUCA1A
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 3