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: 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: rs1320543506
rs1320543506
NPHS2
2 0.925 0.080 1 179575760 frameshift variant -/C delins 0.700 0
dbSNP: rs1553316611
rs1553316611
NPHS2
2 0.925 0.080 1 179575698 frameshift variant -/C delins 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: rs1057516880
rs1057516880
NPHS2
2 0.925 0.080 1 179575769 frameshift variant -/TA ins 0.700 0
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
2 0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05 0.700 1.000 6 2004 2013
dbSNP: rs528833893
rs528833893
NPHS2
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 7 2004 2017
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: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2015 2017
dbSNP: rs12240233
rs12240233
NPHS2
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
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: 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: rs1212702104
rs1212702104
NPHS2
2 0.925 0.080 1 179557025 splice donor variant A/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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
2 0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04 0.800 1.000 18 2000 2015
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: 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: rs748812981
rs748812981
NPHS2
4 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.800 1.000 9 2004 2015
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: rs750332447
rs750332447
NPHS2
1 1.000 0.080 1 179564703 missense variant C/A;G snv 4.0E-06; 2.4E-05 0.700 0