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: 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: 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: 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: 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: rs1057516880
rs1057516880
NPHS2
2 0.925 0.080 1 179575769 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057516900
rs1057516900
NPHS2 ; AXDND1
2 0.925 0.080 1 179551262 frameshift variant -/G delins 4.0E-06 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: rs114896482
rs114896482
NPHS1
3 0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03 0.700 1.000 1 2004 2004
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: 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: 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: 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: rs1320543506
rs1320543506
NPHS2
2 0.925 0.080 1 179575760 frameshift variant -/C delins 0.700 0
dbSNP: rs1462028977
rs1462028977
NPHS2
4 0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06 0.700 1.000 1 2017 2017
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: 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: rs1553315173
rs1553315173
NPHS2
2 0.925 0.080 1 179564795 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553316575
rs1553316575
NPHS2
2 0.925 0.080 1 179575616 frameshift variant C/- del 0.700 1.000 1 2014 2014
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