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: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.030 1.000 3 1999 2019
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 2 2000 2019
dbSNP: rs104894470
rs104894470
GPHN ; RDH12
2 0.925 0.040 14 67727097 stop gained C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
3 0.882 0.080 14 67726086 stop gained G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894671
rs104894671
CRX
4 0.851 0.080 19 47836381 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs1051367143
rs1051367143
IMPDH1
1 1.000 0.040 7 128400124 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137853124
rs137853124
RPGRIP1
2 0.925 0.040 14 21294785 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs61749675
rs61749675
GUCY2D
3 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs62635288
rs62635288
CEP290 ; TMTC3
3 0.882 0.240 12 88141287 missense variant C/A snv 0.700 1.000 1 2006 2006
dbSNP: rs62645752
rs62645752
CRB1
3 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs866395428
rs866395428
LCA5
3 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs869312175
rs869312175
CRX
1 1.000 0.040 19 47839715 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1553128102
rs1553128102
NMNAT1
1 1.000 0.040 1 9982346 missense variant C/A snv 0.700 0
dbSNP: rs1553152989
rs1553152989
RPE65
1 1.000 0.040 1 68438214 synonymous variant T/C snv 0.700 0
dbSNP: rs1553261468
rs1553261468
CRB1
1 1.000 0.040 1 197427543 frameshift variant -/C delins 0.700 0
dbSNP: rs1553722736
rs1553722736
IQCB1
1 1.000 0.040 3 121828473 stop gained A/C snv 0.700 0
dbSNP: rs1554125752
rs1554125752
TULP1
2 0.925 0.080 6 35506146 frameshift variant -/G delins 0.700 0
dbSNP: rs1554347012
rs1554347012
AHI1
1 1.000 0.040 6 135442577 splice region variant C/A snv 0.700 0
dbSNP: rs1555220638
rs1555220638
CEP290
1 1.000 0.040 12 88114573 intron variant A/C snv 0.700 0
dbSNP: rs1555222073
rs1555222073
CEP290
1 1.000 0.040 12 88118638 missense variant C/T snv 0.700 0
dbSNP: rs1555303320
rs1555303320
RPGRIP1
1 1.000 0.040 14 21330269 stop gained G/A snv 0.700 0
dbSNP: rs1555635925
rs1555635925
GUCY2D
1 1.000 0.040 17 8015981 frameshift variant -/CGTGCTCT ins 0.700 0
dbSNP: rs1556313552
rs1556313552
RP2
2 0.925 0.080 X 46837202 splice region variant G/A snv 0.700 0
dbSNP: rs1556313557
rs1556313557
RP2
1 1.000 0.040 X 46837205 splice region variant A/C snv 0.700 0
dbSNP: rs1569531639
rs1569531639
RP2
1 1.000 0.040 X 46853857 frameshift variant AGGGC/- delins 0.700 0