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: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.710 1.000 2 2011 2014
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: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 12 2006 2016
dbSNP: rs750962965
rs750962965
IQCB1
3 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 8 2005 2017
dbSNP: rs62638179
rs62638179
CEP290
3 0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05 0.700 1.000 5 2006 2017
dbSNP: rs62640570
rs62640570
CEP290
5 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 1.000 5 2006 2016
dbSNP: rs764309755
rs764309755
CEP290
3 0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05 0.700 1.000 5 2007 2016
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: 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: 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: rs745770404
rs745770404
PKHD1
2 0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05 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: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 1.000 4 2008 2016
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: rs201218801
rs201218801
CEP290
4 0.851 0.240 12 88059897 splice donor variant C/T snv 1.2E-04 6.3E-05 0.700 1.000 3 2006 2010
dbSNP: rs369523378
rs369523378
CEP290
3 0.882 0.200 12 88083232 splice acceptor variant T/C snv 7.0E-05 4.5E-04 0.700 1.000 3 2006 2010
dbSNP: rs386834157
rs386834157
CEP290
5 0.827 0.280 12 88136697 frameshift variant ATCT/- delins 5.6E-05 8.4E-05 0.700 1.000 3 2007 2011
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: rs727503968
rs727503968
IQCB1
1 1.000 0.080 3 121790112 stop gained G/A snv 5.6E-05 5.6E-05 0.700 1.000 3 2009 2015
dbSNP: rs760915898
rs760915898
CEP290
8 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 1.000 3 2006 2010
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: 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