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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2015 2017
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: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 1.000 3 2015 2017
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: rs1214047676
rs1214047676
NPHS2 ; AXDND1
1 1.000 0.080 1 179551304 missense variant G/A snv 0.700 1.000 14 2000 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12240233
rs12240233
NPHS2
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
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: rs1340195940
rs1340195940
NPHS2
1 1.000 0.080 1 179575782 missense variant T/A snv 2.8E-05 0.700 0
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: 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: rs1477180313
rs1477180313
NPHS2
1 1.000 0.080 1 179575777 stop gained C/A;T snv 9.9E-06 0.700 0