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: rs1006935198
rs1006935198
GUCY2D
3 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
dbSNP: rs1300041533
rs1300041533
PROM1
1 1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06 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: rs565948960
rs565948960
GUCY2D
1 1.000 0.040 17 8006648 missense variant C/T snv 7.4E-05 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: rs747512450
rs747512450
PROM1
1 1.000 0.040 4 16075768 frameshift variant G/- delins 2.8E-05 0.700 0
dbSNP: rs750889782
rs750889782
GUCY2D
2 0.925 0.040 17 8013919 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs763890649
rs763890649
GUCY2D
1 1.000 0.040 17 8006375 frameshift variant TT/- delins 4.2E-06 0.700 0
dbSNP: rs780667159
rs780667159
RPGRIP1
2 0.925 0.040 14 21328469 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1555635778
rs1555635778
GUCY2D
2 0.925 0.080 17 8014751 stop gained C/T snv 0.700 1.000 1 1999 1999
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: 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: 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: 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
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: rs373032226
rs373032226
GPHN ; RDH12
2 0.925 0.080 14 67727062 missense variant C/T snv 9.5E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs773698624
rs773698624
CRB1
1 1.000 0.040 1 197438624 missense variant A/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs777323179
rs777323179
CRB1
1 1.000 0.040 1 197438622 frameshift variant AG/- delins 0.010 1.000 1 2007 2007