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: rs104894672
rs104894672
CRX
3 0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06 0.820 1.000 6 1997 2019
dbSNP: rs104894671
rs104894671
CRX
4 0.851 0.080 19 47836381 missense variant A/C snv 0.810 1.000 5 1997 2000
dbSNP: rs61748459
rs61748459
CRX
3 0.882 0.080 19 47839791 missense variant G/A snv 1.2E-03 5.1E-03 0.720 1.000 6 1997 2003
dbSNP: rs61748436
rs61748436
CRX
4 0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05 0.710 1.000 1 2000 2000
dbSNP: rs796051882
rs796051882
PROM1
1 1.000 0.080 4 15988237 intron variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1568626209
rs1568626209
CRX
1 1.000 0.080 19 47839569 frameshift variant G/- del 0.700 0
dbSNP: rs281865516
rs281865516
CRX
1 1.000 0.080 19 47839678 frameshift variant C/- delins 0.700 0
dbSNP: rs61750172
rs61750172
GUCY2D
8 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 1998 2007
dbSNP: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.040 0.750 4 2005 2008
dbSNP: rs28933695
rs28933695
GUCY2D
4 0.851 0.080 17 8014699 missense variant G/C snv 0.030 1.000 3 1998 2000
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.020 1.000 2 2001 2001
dbSNP: rs61750173
rs61750173
GUCY2D
6 0.827 0.080 17 8014701 missense variant G/A snv 0.020 1.000 2 2004 2014
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.020 1.000 2 2000 2007
dbSNP: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.020 1.000 2 2014 2014
dbSNP: rs1024983534
rs1024983534
TERT
3 0.882 0.080 5 1294569 missense variant C/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1060503013
rs1060503013
TERT
3 0.882 0.080 5 1294844 missense variant G/A;C snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs1186374130
rs1186374130
IFT81
1 1.000 0.080 12 110209209 missense variant T/C snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.010 1.000 1 2006 2006
dbSNP: rs121434631
rs121434631
GUCA1A
6 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1234399841
rs1234399841
FAM161A
3 0.882 0.080 2 61839728 missense variant A/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137853190
rs137853190
PHF3 ; EYS
2 0.925 0.080 6 63720626 stop gained A/T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs1410483989
rs1410483989
IQGAP1
2 0.925 0.120 15 90433737 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1415160006
rs1415160006
PHF3 ; EYS
1 1.000 0.080 6 63720689 missense variant A/T snv 7.0E-06 0.010 1.000 1 2019 2019