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: rs137852919
rs137852919
NPHP4
2 0.925 0.080 1 5887394 stop gained G/A snv 0.700 1.000 2 2002 2005
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: rs1210874691
rs1210874691
NPHP4
1 1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05 0.700 0
dbSNP: rs398124289
rs398124289
NPHP4
1 1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05 0.700 0
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: rs1553508246
rs1553508246
TTC21B
2 0.925 0.200 2 165898769 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs765263671
rs765263671
NPHP1
1 1.000 0.080 2 110161686 stop gained G/A snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs766524637
rs766524637
NPHP1
2 0.925 0.080 2 110168521 frameshift variant T/-;TT delins 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs121907898
rs121907898
NPHP1
2 0.925 0.080 2 110201484 stop gained A/C;T snv 4.0E-06 0.700 0
dbSNP: rs121907899
rs121907899
NPHP1
2 0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs1553506530
rs1553506530
TTC21B
2 0.925 0.200 2 165888354 frameshift variant TA/- delins 0.700 0
dbSNP: rs747861275
rs747861275
NPHP1
2 0.925 0.080 2 110146752 splice donor variant C/- del 8.0E-06 0.700 0
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: 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: 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: 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: rs119456959
rs119456959
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132682077 inframe deletion CCT/- delins 0.700 1.000 1 2003 2003
dbSNP: rs201237799
rs201237799
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132691199 stop gained G/A snv 4.0E-05 2.1E-05 0.700 1.000 1 2009 2009
dbSNP: rs267606916
rs267606916
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132696798 stop gained G/A snv 4.8E-05 1.0E-04 0.700 1.000 1 2009 2009
dbSNP: rs1060499938
rs1060499938
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132683487 frameshift variant G/- del 0.700 0
dbSNP: rs121918244
rs121918244
IQCB1
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0
dbSNP: rs1553773271
rs1553773271
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132699352 splice donor variant C/T snv 0.700 0
dbSNP: rs1560000875
rs1560000875
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132686280 stop gained G/C snv 0.700 0
dbSNP: rs1560002147
rs1560002147
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132688818 frameshift variant -/G delins 0.700 0