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: rs61750168
rs61750168
GUCY2D
4 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 0.800 1.000 15 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: 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: rs61749675
rs61749675
GUCY2D
3 0.882 0.080 17 8004104 missense variant T/C snv 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: 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: rs757823463
rs757823463
GUCY2D
2 0.925 0.080 17 8016291 splice donor variant G/C snv 5.8E-06 0.700 1.000 4 2000 2013
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: 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: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
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: 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: rs1555635778
rs1555635778
GUCY2D
2 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
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: 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
dbSNP: rs62653012
rs62653012
RPE65
1 1.000 0.040 1 68438212 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs745897683
rs745897683
GUCY2D
2 1.000 0.040 17 8004035 missense variant G/T snv 4.0E-06 0.010 1.000 1 2006 2006