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: rs869025561
rs869025561
WT1
1 1.000 0.080 11 32392755 missense variant C/A snv 0.700 0
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
2 0.925 0.080 1 179552605 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 10 2000 2014
dbSNP: rs74315347
rs74315347
NPHS2
2 0.925 0.080 1 179557227 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 9 2002 2013
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
2 0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 2002 2015
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
2 0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04 0.700 1.000 6 2004 2015
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
2 0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05 0.700 1.000 6 2004 2013
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
2 0.925 0.080 1 179552614 missense variant C/T snv 4.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs528833893
rs528833893
NPHS2
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 5 2004 2009
dbSNP: rs786204583
rs786204583
NPHS2
2 0.925 0.080 1 179559711 missense variant G/A snv 0.700 1.000 4 2004 2013
dbSNP: rs1291398331
rs1291398331
NPHS2
2 0.925 0.080 1 179557231 splice acceptor variant C/A snv 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs12568913
rs12568913
NPHS2
2 0.925 0.080 1 179557179 stop gained G/A;C;T snv 1.2E-05; 8.0E-06 0.700 1.000 2 2001 2005
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
2 0.925 0.080 1 179552602 splice donor variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs762631237
rs762631237
NPHS2
2 0.925 0.080 1 179564689 splice donor variant C/T snv 8.0E-06 0.700 1.000 2 2008 2015
dbSNP: rs786204708
rs786204708
NPHS2
2 0.925 0.080 1 179561287 splice donor variant A/T snv 0.700 1.000 2 2004 2014
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
2 0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05 0.700 1.000 2 2015 2016
dbSNP: rs1057516414
rs1057516414
NPHS2
2 0.925 0.080 1 179557080 stop gained G/A;T snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057516747
rs1057516747
NPHS2
2 0.925 0.080 1 179575722 frameshift variant -/AGCCC delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1553316575
rs1553316575
NPHS2
2 0.925 0.080 1 179575616 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs755972674
rs755972674
NPHS2
2 0.925 0.080 1 179561355 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs763818901
rs763818901
NPHS2 ; AXDND1
2 0.925 0.080 1 179551361 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs778055996
rs778055996
NPHS2
2 0.925 0.080 1 179557122 stop gained G/A;C snv 1.2E-05; 8.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs1031744496
rs1031744496
NPHS2 ; AXDND1
2 0.925 0.080 1 179551453 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057516395
rs1057516395
NPHS2
2 0.925 0.080 1 179564699 frameshift variant G/- del 0.700 0
dbSNP: rs1057516523
rs1057516523
NPHS2 ; AXDND1
2 0.925 0.080 1 179552682 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057516680
rs1057516680
NPHS2
2 0.925 0.080 1 179575862 start lost C/A;T snv 0.700 0