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: 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: rs760544654
rs760544654
CRB1
1 1.000 0.040 1 197442278 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs766143193
rs766143193
LCA5 ; LOC100506851
1 1.000 0.040 6 79487422 stop gained G/A;T snv 3.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs869312175
rs869312175
CRX
1 1.000 0.040 19 47839715 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1057518122
rs1057518122
RPGRIP1
1 1.000 0.040 14 21334710 splice region variant G/A snv 8.8E-06 0.700 0
dbSNP: rs1191496583
rs1191496583
RPE65
1 1.000 0.040 1 68444607 missense variant C/T snv 1.6E-05 1.3E-04 0.700 0
dbSNP: rs121918844
rs121918844
RPE65
1 1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1420672586
rs1420672586
RPE65
1 1.000 0.040 1 68431282 missense variant C/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs142326926
rs142326926
AIPL1
1 1.000 0.040 17 6426615 missense variant C/T snv 3.2E-05 4.9E-05 0.700 0
dbSNP: rs1429137932
rs1429137932
RPE65
1 1.000 0.040 1 68446713 missense variant C/A snv 4.8E-05 8.4E-05 0.700 0
dbSNP: rs150412614
rs150412614
CRB1
1 1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05 0.700 0
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: 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: 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
dbSNP: rs192907397
rs192907397
RPE65
1 1.000 0.040 1 68439568 missense variant C/A;T snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs201405662
rs201405662
IQCB1
1 1.000 0.040 3 121828519 stop gained G/A;C snv 3.6E-05; 8.0E-06 0.700 0
dbSNP: rs371609982
rs371609982
SPATA7
1 1.000 0.040 14 88385837 missense variant G/A;C;T snv 1.3E-05 0.700 0