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: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
dbSNP: rs147346345
rs147346345
CDHR1
2 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.710 1.000 2 2019 2019
dbSNP: rs61749409
rs61749409
ABCA4
4 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.710 1.000 2 1999 2014
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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2016
dbSNP: rs1762111
rs1762111
ABCA4
5 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 1.000 2 1997 2019
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: rs76157638
rs76157638
ABCA4
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 2 1997 2019
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1052954321
rs1052954321
ALPK1
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1064793014
rs1064793014
ABCA4
1 1 94007707 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs112029032
rs112029032
HGSNAT
4 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.700 1.000 1 2006 2006
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: rs121908282
rs121908282
HGSNAT
3 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 1 2006 2006
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: rs1401818080
rs1401818080
HGSNAT
1 8 43197027 splice region variant -/A delins 4.0E-06; 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs145282040
rs145282040
CRB1
2 1.000 0.080 1 197427454 missense variant A/G;T snv 1.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs1553186896
rs1553186896
ABCA4
2 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1553190559
rs1553190559
ABCA4
1 1 94042790 missense variant A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1553192432
rs1553192432
ABCA4
1 1 94060712 frameshift variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs1553192726
rs1553192726
ABCA4
2 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015