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: rs1006935198
rs1006935198
GUCY2D
3 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
dbSNP: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.030 1.000 3 1999 2014
dbSNP: rs121912554
rs121912554
IMPDH1
2 0.925 0.040 7 128400120 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121917744
rs121917744
RPE65
4 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs1237263305
rs1237263305
TULP1
2 0.925 0.080 6 35505772 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1300041533
rs1300041533
PROM1
1 1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06 0.700 0
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1344724754
rs1344724754
RPE65
1 1.000 0.040 1 68446755 missense variant A/C snv 4.0E-06 0.020 1.000 2 2012 2019
dbSNP: rs138922415
rs138922415
GUCY2D
1 1.000 0.040 17 8003873 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1395763356
rs1395763356
RPE65
1 1.000 0.040 1 68431116 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1400815962
rs1400815962
RPE65
2 0.925 0.040 1 68431369 missense variant C/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs149916178
rs149916178
RPE65
1 1.000 0.040 1 68438977 missense variant A/C snv 1.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs150427474
rs150427474
AIPL1
2 1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs1555635550
rs1555635550
GUCY2D
1 1.000 0.040 17 8013073 splice donor variant GCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCG/- delins 0.700 0
dbSNP: rs1555635668
rs1555635668
GUCY2D
1 1.000 0.040 17 8013992 frameshift variant G/- delins 0.700 0
dbSNP: rs1555635778
rs1555635778
GUCY2D
2 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1567958644
rs1567958644
GUCY2D
1 1.000 0.040 17 8007070 frameshift variant G/- delins 0.700 0
dbSNP: rs17852293
rs17852293
GPHN ; RDH12
1 1.000 0.040 14 67727014 missense variant G/A;C snv 0.13; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs201414567
rs201414567
GUCY2D
1 1.000 0.040 17 8003211 missense variant C/T snv 1.0E-03 4.7E-04 0.700 1.000 9 1996 2018
dbSNP: rs2276717
rs2276717
SLC7A14 ; SLC7A14-AS1
4 0.851 0.080 3 170483441 missense variant C/T snv 1.7E-03 5.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs371526758
rs371526758
NMNAT1
2 0.925 0.040 1 9982368 stop gained G/A snv 4.0E-05 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs373032226
rs373032226
GPHN ; RDH12
2 0.925 0.080 14 67727062 missense variant C/T snv 9.5E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs375010731
rs375010731
GUCY2D
1 1.000 0.040 17 8013967 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs387907294
rs387907294
NMNAT1
2 0.925 0.040 1 9972098 missense variant G/A snv 0.020 1.000 2 2012 2015