Gene: RPE65 ×
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: 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: 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: 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: 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