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: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 2 2005 2016
dbSNP: rs778234759
rs778234759
ABCA4
3 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2013 2013
dbSNP: rs1555955061
rs1555955061
CHM
2 X 85965588 intron variant T/C snv 0.700 0
dbSNP: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs121908180
rs121908180
BBS2
3 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs121918244
rs121918244
IQCB1
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 1.000 1 2005 2005
dbSNP: rs137853005
rs137853005
PROM1
3 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs137853137
rs137853137
CRB1
4 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs137853907
rs137853907
PROM1
1 4 16000517 stop gained G/T snv 2.8E-05 8.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs1553192726
rs1553192726
ABCA4
2 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1563329888
rs1563329888
RP1
2 1.000 0.080 8 54625333 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs200691042
rs200691042
FAM161A
5 0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 0.700 1.000 1 2019 2019
dbSNP: rs202193201
rs202193201
FAM161A
3 0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs373331232
rs373331232
PROM1
1 4 16023380 stop gained G/A;C snv 1.7E-05 0.700 1.000 1 2014 2014
dbSNP: rs398123575
rs398123575
EYS
2 1.000 0.080 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs61750654
rs61750654
ABCA4
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs61751383
rs61751383
ABCA4
6 0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs61752419
rs61752419
ABCA4
1 1 94042786 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs750987123
rs750987123
PCARE
2 1.000 0.080 2 29073504 stop gained C/T snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs758291149
rs758291149
IMPG2
2 3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs758316679
rs758316679
ABHD12
1 20 25339350 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs780697796
rs780697796
PROM1
2 1.000 0.080 4 16033377 stop gained G/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2015 2015