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: 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: rs387907294
rs387907294
NMNAT1
2 0.925 0.040 1 9972098 missense variant G/A snv 0.020 1.000 2 2012 2015
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: 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: 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: 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: rs61752906
rs61752906
RPE65
1 1.000 0.040 1 68438977 frameshift variant -/T delins 5.2E-03 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs62636299
rs62636299
RPE65
4 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs62645748
rs62645748
CRB1
7 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.710 1.000 1 2008 2008
dbSNP: rs62653012
rs62653012
RPE65
1 1.000 0.040 1 68438212 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs750724065
rs750724065
RPE65
1 1.000 0.040 1 68446831 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs773698624
rs773698624
CRB1
1 1.000 0.040 1 197438624 missense variant A/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs774211361
rs774211361
RPE65
2 0.925 0.040 1 68431106 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs777323179
rs777323179
CRB1
1 1.000 0.040 1 197438622 frameshift variant AG/- delins 0.010 1.000 1 2007 2007
dbSNP: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 0
dbSNP: rs62645747
rs62645747
CRB1
3 0.882 0.040 1 197429614 missense variant T/A;C snv 0.700 0
dbSNP: rs62645752
rs62645752
CRB1
3 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 0
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: rs776291294
rs776291294
SLC7A14 ; SLC7A14-AS1
3 0.882 0.080 3 170480312 missense variant C/T snv 1.5E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1300041533
rs1300041533
PROM1
1 1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06 0.700 0
dbSNP: rs747512450
rs747512450
PROM1
1 1.000 0.040 4 16075768 frameshift variant G/- delins 2.8E-05 0.700 0
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: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017