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: rs138043021
rs138043021
BBS2
4 0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05 0.700 0
dbSNP: rs138398671
rs138398671
USH2A
1 1.000 0.080 1 215674515 missense variant G/A snv 2.2E-04 2.5E-04 0.700 0
dbSNP: rs140451304
rs140451304
CFAP410
3 0.882 0.120 21 44333188 missense variant C/G;T snv 3.1E-04; 8.2E-06 0.700 0
dbSNP: rs144738703
rs144738703
PRPF31
1 1.000 0.080 19 54123836 stop gained C/A;G;T snv 6.8E-05 0.700 0
dbSNP: rs1471994744
rs1471994744
EYS
2 0.925 0.080 6 65353609 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1477733493
rs1477733493
CDHR1
1 1.000 0.080 10 84211689 stop gained T/G snv 4.0E-06 0.700 0
dbSNP: rs150230450
rs150230450
USH2A
1 1.000 0.080 1 216046523 missense variant G/C snv 2.3E-04 1.5E-04 0.700 0
dbSNP: rs1553188588
rs1553188588
ABCA4
1 1.000 0.080 1 94021235 splice region variant C/T snv 0.700 0
dbSNP: rs1553257685
rs1553257685
USH2A
1 1.000 0.080 1 215743218 missense variant G/A snv 0.700 0
dbSNP: rs1553260517
rs1553260517
CRB1
1 1.000 0.080 1 197421845 missense variant A/G snv 0.700 0
dbSNP: rs1553263639
rs1553263639
USH2A
1 1.000 0.080 1 215799080 missense variant C/A snv 0.700 0
dbSNP: rs1553273280
rs1553273280
USH2A
1 1.000 0.080 1 215888425 splice donor variant C/G snv 0.700 0
dbSNP: rs1553274531
rs1553274531
USH2A
1 1.000 0.080 1 215900848 missense variant A/T snv 0.700 0
dbSNP: rs1553354861
rs1553354861
FAM161A
1 1.000 0.080 2 61840323 frameshift variant CTTC/- delins 0.700 0
dbSNP: rs1553513437
rs1553513437
CERKL
2 0.925 0.080 2 181548674 splice donor variant CTTA/- delins 0.700 0
dbSNP: rs1553681348
rs1553681348
IMPG2
1 1.000 0.080 3 101243905 stop gained C/T snv 0.700 0
dbSNP: rs1553687058
rs1553687058
IMPG2
1 1.000 0.080 3 101319800 stop gained C/A snv 0.700 0
dbSNP: rs1553780837
rs1553780837
RHO
1 1.000 0.080 3 129528816 missense variant A/G snv 0.700 0
dbSNP: rs1554125752
rs1554125752
TULP1
2 0.925 0.080 6 35506146 frameshift variant -/G delins 0.700 0
dbSNP: rs1554152094
rs1554152094
EYS
1 1.000 0.080 6 64388841 splice acceptor variant CTG/- del 0.700 0
dbSNP: rs1554163929
rs1554163929
PHF3 ; EYS
1 1.000 0.080 6 63721353 frameshift variant T/- delins 0.700 0
dbSNP: rs1554183432
rs1554183432
EYS
1 1.000 0.080 6 64590459 stop gained G/C snv 0.700 0
dbSNP: rs1554183440
rs1554183440
EYS
1 1.000 0.080 6 64590525 stop gained ACTGAGCCTGTCAATGGTGGCAGATT/TA delins 0.700 0
dbSNP: rs1554194404
rs1554194404
EYS ; LOC107986608
1 1.000 0.080 6 63984501 stop gained G/A snv 0.700 0
dbSNP: rs1554204963
rs1554204963
EYS
1 1.000 0.080 6 64081925 stop gained C/A snv 0.700 0