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: rs61749669
rs61749669
GUCY2D
1 1.000 0.040 17 8003361 missense variant G/A snv 0.700 1.000 9 1996 2018
dbSNP: rs61749675
rs61749675
GUCY2D
3 0.882 0.080 17 8004104 missense variant T/C snv 0.700 1.000 9 1996 2018
dbSNP: rs61750171
rs61750171
GUCY2D
1 1.000 0.040 17 8014000 missense variant G/A;T snv 0.700 1.000 9 1996 2018
dbSNP: rs61750176
rs61750176
GUCY2D
1 1.000 0.040 17 8014760 missense variant C/A;T snv 0.700 1.000 9 1996 2018
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: rs387907294
rs387907294
NMNAT1
2 0.925 0.040 1 9972098 missense variant G/A snv 0.020 1.000 2 2012 2015
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: rs1555635778
rs1555635778
GUCY2D
2 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs62653012
rs62653012
RPE65
1 1.000 0.040 1 68438212 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs777323179
rs777323179
CRB1
1 1.000 0.040 1 197438622 frameshift variant AG/- delins 0.010 1.000 1 2007 2007
dbSNP: rs1006935198
rs1006935198
GUCY2D
3 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
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: rs1567958644
rs1567958644
GUCY2D
1 1.000 0.040 17 8007070 frameshift variant G/- delins 0.700 0
dbSNP: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 0
dbSNP: rs61749671
rs61749671
GUCY2D
1 1.000 0.040 17 8003667 frameshift variant C/- delins 0.700 0
dbSNP: rs61749758
rs61749758
GUCY2D
1 1.000 0.040 17 8012352 splice donor variant T/A;C snv 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: rs61749755
rs61749755
GUCY2D
1 1.000 0.040 17 8009531 missense variant T/C snv 4.0E-06 0.800 1.000 9 1996 2018
dbSNP: rs61749756
rs61749756
GUCY2D
1 1.000 0.040 17 8009554 missense variant A/C;G snv 4.0E-06; 2.0E-05 0.700 1.000 9 1996 2018
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: 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: 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: 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