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: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 7 2009 2015
dbSNP: rs965522059
rs965522059
CEP290
8 0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05 0.700 1.000 5 2006 2011
dbSNP: rs747835249
rs747835249
CEP290
4 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 1.000 4 2006 2013
dbSNP: rs756302731
rs756302731
CEP290
4 0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06 0.700 1.000 4 2007 2016
dbSNP: rs1060499781
rs1060499781
CEP290
4 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 1.000 3 2006 2010
dbSNP: rs1192112844
rs1192112844
CEP290
3 0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06 0.700 1.000 3 2006 2010
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 2 2007 2017
dbSNP: rs386833750
rs386833750
CC2D2A
6 0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 0.700 1.000 2 2009 2010
dbSNP: rs386833751
rs386833751
CC2D2A
4 0.851 0.320 4 15567676 splice acceptor variant G/- delins 0.700 1.000 2 2008 2012
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: 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: 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: rs1182447072
rs1182447072
RPGRIP1L
2 0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-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