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: 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: 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: 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
dbSNP: rs74315346
rs74315346
NPHS2
2 0.925 0.080 1 179559734 missense variant T/A;C snv 0.700 0
dbSNP: rs776016942
rs776016942
NPHS2 ; AXDND1
2 0.925 0.080 1 179551452 splice acceptor variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs869025495
rs869025495
NPHS2
6 0.851 0.080 1 179564715 missense variant G/A snv 0.700 0
dbSNP: rs869025561
rs869025561
WT1
1 1.000 0.080 11 32392755 missense variant C/A snv 0.700 0
dbSNP: rs869312746
rs869312746
NPHS2
2 0.925 0.080 1 179575750 stop gained G/A snv 0.700 0
dbSNP: rs869312747
rs869312747
NPHS2 ; AXDND1
2 0.925 0.080 1 179552664 missense variant G/A snv 0.700 0
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: rs74315342
rs74315342
NPHS2
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.700 1.000 12 2000 2018
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