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: rs386834043
rs386834043
MKS1
4 0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03 0.700 1.000 5 2006 2007
dbSNP: rs281865192
rs281865192
CEP290
11 0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 0.700 1.000 4 2006 2012
dbSNP: rs1060499781
rs1060499781
CEP290
4 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 1.000 3 2006 2010
dbSNP: rs727503855
rs727503855
CEP290
6 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 3 2015 2016
dbSNP: rs1170451277
rs1170451277
CEP290
8 0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs1213286417
rs1213286417
CEP290
3 0.882 0.200 12 88089033 frameshift variant T/- delins 2.8E-05 0.700 1.000 2 2007 2018
dbSNP: rs386833751
rs386833751
CC2D2A
4 0.851 0.320 4 15567676 splice acceptor variant G/- delins 0.700 1.000 2 2008 2012
dbSNP: rs386833759
rs386833759
CC2D2A
4 0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06 0.700 1.000 2 2009 2015
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 1.000 2 2009 2015
dbSNP: rs1555225566
rs1555225566
CEP290
3 0.882 0.200 12 88129718 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs386834185
rs386834185
TMEM67
3 0.882 0.320 8 93787843 splice acceptor variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs587783017
rs587783017
CEP290
4 0.851 0.200 12 88055667 frameshift variant T/-;TT delins 0.700 1.000 1 2015 2015
dbSNP: rs797045437
rs797045437
CC2D2A
3 0.882 0.320 4 15597432 frameshift variant GACA/- delins 0.700 1.000 1 2016 2016
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: 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: rs1555599412
rs1555599412
MKS1
5 0.827 0.320 17 58213011 stop gained C/A snv 0.700 0
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 0.700 0
dbSNP: rs587777145
rs587777145
CSPP1
2 0.925 0.040 8 67158463 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs587779733
rs587779733
CEP290
1 1.000 0.040 12 88084669 frameshift variant T/- delins 0.700 0