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: rs201414567
rs201414567
GUCY2D
1 1.000 0.040 17 8003211 missense variant C/T snv 1.0E-03 4.7E-04 0.700 1.000 9 1996 2018
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
dbSNP: rs61749665
rs61749665
GUCY2D
1 1.000 0.040 17 8003201 missense variant G/T snv 0.42 0.30 0.700 1.000 9 1996 2018
dbSNP: rs61749669
rs61749669
GUCY2D
1 1.000 0.040 17 8003361 missense variant G/A snv 0.700 1.000 9 1996 2018
dbSNP: rs61749673
rs61749673
GUCY2D
1 1.000 0.040 17 8004065 missense variant C/G;T snv 2.0E-05 0.700 1.000 9 1996 2018
dbSNP: rs61749677
rs61749677
GUCY2D
1 1.000 0.040 17 8006420 missense variant G/A;T snv 1.7E-05 0.700 1.000 9 1996 2018
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: rs61750162
rs61750162
GUCY2D
1 1.000 0.040 17 8012472 missense variant G/A snv 3.8E-04 3.2E-04 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: rs61750182
rs61750182
GUCY2D
1 1.000 0.040 17 8015419 missense variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 9 1996 2018
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: rs121912554
rs121912554
IMPDH1
2 0.925 0.040 7 128400120 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs138922415
rs138922415
GUCY2D
1 1.000 0.040 17 8003873 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2016 2016
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: rs150427474
rs150427474
AIPL1
2 1.000 0.040 17 6425644 missense variant C/A;T snv 3.8E-03; 8.0E-05 0.010 1.000 1 2006 2006
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: 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: rs62637015
rs62637015
AIPL1
2 1.000 0.040 17 6425710 missense variant C/A;T snv 2.6E-03; 1.2E-05 0.010 1.000 1 2006 2006