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: 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: rs369925690
rs369925690
PKHD1
2 0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04 0.700 1.000 4 2002 2010
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: rs121964994
rs121964994
INVS
2 0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05 0.700 1.000 2 2003 2011
dbSNP: rs1280238814
rs1280238814
IQCB1
1 1.000 0.080 3 121772620 stop gained G/A snv 8.0E-06 0.700 1.000 2 2011 2015
dbSNP: rs137852919
rs137852919
NPHP4
2 0.925 0.080 1 5887394 stop gained G/A snv 0.700 1.000 2 2002 2005
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: rs104894760
rs104894760
AVPR2
4 0.851 0.080 X 153905816 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs119456959
rs119456959
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132682077 inframe deletion CCT/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1322951938
rs1322951938
INVS
1 1.000 0.080 9 100293045 splice donor variant T/C;G snv 0.700 1.000 1 2003 2003
dbSNP: rs137852922
rs137852922
NPHP4
2 0.925 0.160 1 5887436 stop gained G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs137852923
rs137852923
NPHP4
3 0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1553508246
rs1553508246
TTC21B
2 0.925 0.200 2 165898769 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1555225566
rs1555225566
CEP290
3 0.882 0.200 12 88129718 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs200844390
rs200844390
INVS
2 0.925 0.080 9 100292952 stop gained C/A;T snv 1.6E-05; 4.8E-05 0.700 1.000 1 2013 2013
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 1 2011 2011
dbSNP: rs202149403
rs202149403
TMEM67
4 0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs376879175
rs376879175
INVS
1 1.000 0.080 9 100293039 stop gained C/A;T snv 1.2E-05; 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs549662742
rs549662742
PRPF40B ; FAM186B
1 1.000 0.080 12 49601136 splice acceptor variant T/C snv 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs587777353
rs587777353
PAM16 ; GLIS2
3 0.882 0.120 16 4335060 missense variant T/C snv 0.710 1.000 1 2016 2016
dbSNP: rs587783017
rs587783017
CEP290
4 0.851 0.200 12 88055667 frameshift variant T/-;TT delins 0.700 1.000 1 2015 2015