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: rs530318579
rs530318579
NPHS2
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.800 1.000 24 2000 2015
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
2 0.925 0.080 1 179552605 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.800 1.000 22 2000 2015
dbSNP: rs74315347
rs74315347
NPHS2
2 0.925 0.080 1 179557227 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 20 2000 2015
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
2 0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04 0.800 1.000 18 2000 2015
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
1 1.000 0.080 1 179552625 missense variant G/A snv 4.0E-06 3.5E-05 0.800 1.000 16 2000 2015
dbSNP: rs786204583
rs786204583
NPHS2
2 0.925 0.080 1 179559711 missense variant G/A snv 0.800 1.000 16 2000 2015
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
1 1.000 0.080 1 179551304 missense variant G/A snv 0.700 1.000 14 2000 2015
dbSNP: rs12240233
rs12240233
NPHS2
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
dbSNP: rs1345260812
rs1345260812
NPHS2
1 1.000 0.080 1 179561324 missense variant A/C snv 7.0E-06 0.700 1.000 14 2000 2015
dbSNP: rs200913299
rs200913299
NPHS2
1 1.000 0.080 1 179564779 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 14 2000 2015
dbSNP: rs561887984
rs561887984
NPHS2
1 1.000 0.080 1 179575780 missense variant C/T snv 2.0E-05 2.4E-04 0.700 1.000 14 2000 2015
dbSNP: rs74315345
rs74315345
NPHS2
2 0.925 0.080 1 179575591 missense variant C/A;G;T snv 0.800 1.000 14 2000 2015
dbSNP: rs74315346
rs74315346
NPHS2
2 0.925 0.080 1 179559734 missense variant T/A;C snv 0.800 1.000 14 2000 2015
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
1 1.000 0.080 1 179551360 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 2.0E-05 0.700 1.000 14 2000 2015
dbSNP: rs748812981
rs748812981
NPHS2
4 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.800 1.000 9 2004 2015
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
3 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 1.000 8 2000 2011
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: rs528833893
rs528833893
NPHS2
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 7 2004 2017
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: 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