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: 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: 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: 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: 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: 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: rs372607453
rs372607453
RBM48
1 1.000 0.080 7 92534788 missense variant A/G snv 2.8E-05 1.4E-05 0.700 1.000 1 2016 2016
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: rs61893682
rs61893682
INCENP
1 1.000 0.080 11 62150080 missense variant G/C snv 2.8E-03 2.5E-03 0.700 1.000 1 2016 2016
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: rs774456004
rs774456004
PIAS1
1 1.000 0.080 15 68086598 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs878855332
rs878855332
INVS
1 1.000 0.080 9 100253088 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs878855333
rs878855333
INVS
1 1.000 0.080 9 100300600 frameshift variant A/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1060499938
rs1060499938
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132683487 frameshift variant G/- del 0.700 0
dbSNP: rs1210874691
rs1210874691
NPHP4
1 1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05 0.700 0
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: rs1425211517
rs1425211517
INVS
1 1.000 0.080 9 100297017 stop gained C/T snv 0.700 0
dbSNP: rs150001738
rs150001738
INVS
1 1.000 0.080 9 100284591 stop gained A/G;T snv 3.1E-04 3.3E-04 0.700 0