Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs104893620
rs104893620
CNGA3
6 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.700 0
dbSNP: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518767
rs1057518767
ABCA4
5 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
dbSNP: rs398123339
rs398123339
ABCA4
5 0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs61750654
rs61750654
ABCA4
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs61751406
rs61751406
ABCA4
4 0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs61755787
rs61755787
PRPH2
5 0.882 0.120 6 42721866 missense variant C/T snv 0.700 0
dbSNP: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 0.500 2 2008 2019
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.020 1.000 2 2005 2011
dbSNP: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1998 2014
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1463729
rs1463729 		3 0.925 0.120 9 124119169 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs1867315
rs1867315
RASGRF1 ; LOC100129540
3 0.882 0.120 15 78977393 intron variant C/G;T snv 0.010 1.000 1 2015 2015