Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776576
WT1
0.790 0.280 11 32391967 splice region variant C/T snv 7
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 6
rs869025495
NPHS2
0.851 0.080 1 179564715 missense variant G/A snv 6
rs1031744496
NPHS2 ; AXDND1
0.925 0.080 1 179551453 splice acceptor variant T/G snv 2
rs1057516395
NPHS2
0.925 0.080 1 179564699 frameshift variant G/- del 2
rs1057516414
NPHS2
0.925 0.080 1 179557080 stop gained G/A;T snv 8.0E-06 2
rs1057516523
NPHS2 ; AXDND1
0.925 0.080 1 179552682 splice acceptor variant C/T snv 2
rs1057516680
NPHS2
0.925 0.080 1 179575862 start lost C/A;T snv 2
rs1057516880
NPHS2
0.925 0.080 1 179575769 frameshift variant -/TA ins 2
rs1057516900
NPHS2 ; AXDND1
0.925 0.080 1 179551262 frameshift variant -/G delins 4.0E-06 2
rs1057517164
NPHS2 ; AXDND1
0.925 0.080 1 179552617 stop gained G/A snv 2
rs1060499703
NPHS2
0.925 0.080 1 179559762 splice acceptor variant C/T snv 2
rs1167223941
NPHS2
0.925 0.080 1 179575699 stop gained C/A;T snv 2
rs1212702104
NPHS2
0.925 0.080 1 179557025 splice donor variant A/G snv 2
rs12568913
NPHS2
0.925 0.080 1 179557179 stop gained G/A;C;T snv 1.2E-05; 8.0E-06 2
rs1320543506
NPHS2
0.925 0.080 1 179575760 frameshift variant -/C delins 2
rs1490010141
NPHS2 ; AXDND1
0.925 0.080 1 179552614 missense variant C/T snv 4.0E-06 2
rs1553312833
AXDND1 ; NPHS2
0.925 0.080 1 179552602 splice donor variant C/T snv 2
rs1553315173
NPHS2
0.925 0.080 1 179564795 splice acceptor variant T/C snv 2
rs1553316575
NPHS2
0.925 0.080 1 179575616 frameshift variant C/- del 2
rs1553316611
NPHS2
0.925 0.080 1 179575698 frameshift variant -/C delins 2
rs1553316648
NPHS2
0.925 0.080 1 179575763 frameshift variant T/CC delins 2
rs1558355124
NPHS2
0.925 0.080 1 179575698 frameshift variant T/- del 2
rs199506378
NPHS2 ; AXDND1
0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06 2
rs528833893
NPHS2
0.925 0.080 1 179559746 frameshift variant A/-;AA delins 2