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: rs62645748
rs62645748
CRB1
7 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.710 1.000 1 2008 2008
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: 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: 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: 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