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: rs1555225566
rs1555225566
CEP290
3 0.882 0.200 12 88129718 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs587783017
rs587783017
CEP290
4 0.851 0.200 12 88055667 frameshift variant T/-;TT delins 0.700 1.000 1 2015 2015
dbSNP: rs62638180
rs62638180
CEP290
3 0.882 0.200 12 88071819 frameshift variant TAAAG/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs757609119
rs757609119
CEP290
3 0.882 0.200 12 88077848 frameshift variant CT/- delins 1.1E-05 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs758593134
rs758593134
CEP290 ; TMTC3
4 0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06 0.700 1.000 1 2010 2010
dbSNP: rs766392300
rs766392300
MKS1
2 0.925 0.200 17 58207105 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs773036963
rs773036963
MKS1
2 0.925 0.200 17 58213871 splice acceptor variant T/A snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1060501006
rs1060501006
RPGRIP1L
2 0.925 0.200 16 53671539 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1064792983
rs1064792983
TMEM67
2 0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins 0.700 0
dbSNP: rs1182447072
rs1182447072
RPGRIP1L
2 0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-06 0.700 0
dbSNP: rs1277577195
rs1277577195
RPGRIP1L
2 0.925 0.200 16 53687912 stop gained T/A snv 4.2E-05 0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
3 0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1554556213
rs1554556213
TMEM67
2 0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv 0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
3 0.882 0.200 12 88071370 frameshift variant CTCGT/- del 0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
3 0.882 0.200 12 88080196 stop gained C/A snv 0.700 0
dbSNP: rs1555212150
rs1555212150
CEP290
3 0.882 0.200 12 88093873 stop gained TC/CA mnv 0.700 0
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 0.700 0
dbSNP: rs747323414
rs747323414
CEP290
3 0.882 0.200 12 88084855 splice region variant G/- del 2.6E-05 4.2E-05 0.700 0
dbSNP: rs748951253
rs748951253
TCTN2
2 0.925 0.200 12 123673712 frameshift variant C/-;CC delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs749987648
rs749987648
RPGRIP1L
2 0.925 0.200 16 53658793 frameshift variant TTTT/-;TTT;TTTTT delins 0.700 0
dbSNP: rs751128300
rs751128300
RPGRIP1L
2 0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs756821449
rs756821449
RPGRIP1L
2 0.925 0.200 16 53657545 stop gained C/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs757208121
rs757208121
CC2D2A
3 0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs757594906
rs757594906
RPGRIP1L
2 0.925 0.200 16 53672927 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs757641323
rs757641323
CEP290
3 0.882 0.200 12 88131209 stop gained G/A snv 1.4E-05 0.700 0