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: rs528833893
rs528833893
NPHS2
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 5 2004 2009
dbSNP: rs587776576
rs587776576
WT1
7 0.790 0.280 11 32391967 splice region variant C/T snv 0.700 1.000 4 1992 2013
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: 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: 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: 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: rs1272948499
rs1272948499
NPHS2
3 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1553316575
rs1553316575
NPHS2
2 0.925 0.080 1 179575616 frameshift variant C/- del 0.700 1.000 1 2014 2014
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
dbSNP: rs1057516880
rs1057516880
NPHS2
2 0.925 0.080 1 179575769 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057517164
rs1057517164
NPHS2 ; AXDND1
2 0.925 0.080 1 179552617 stop gained G/A snv 0.700 0
dbSNP: rs1060499703
rs1060499703
NPHS2
2 0.925 0.080 1 179559762 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1167223941
rs1167223941
NPHS2
2 0.925 0.080 1 179575699 stop gained C/A;T snv 0.700 0
dbSNP: rs1212702104
rs1212702104
NPHS2
2 0.925 0.080 1 179557025 splice donor variant A/G snv 0.700 0
dbSNP: rs1320543506
rs1320543506
NPHS2
2 0.925 0.080 1 179575760 frameshift variant -/C delins 0.700 0
dbSNP: rs1553315173
rs1553315173
NPHS2
2 0.925 0.080 1 179564795 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553316611
rs1553316611
NPHS2
2 0.925 0.080 1 179575698 frameshift variant -/C delins 0.700 0
dbSNP: rs1553316648
rs1553316648
NPHS2
2 0.925 0.080 1 179575763 frameshift variant T/CC delins 0.700 0
dbSNP: rs1558355124
rs1558355124
NPHS2
2 0.925 0.080 1 179575698 frameshift variant T/- del 0.700 0
dbSNP: rs74315345
rs74315345
NPHS2
2 0.925 0.080 1 179575591 missense variant C/A;G;T snv 0.700 0