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: rs3842689
rs3842689
NR1I2
2 0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35 0.010 1.000 1 2016 2016
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: 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: 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: rs74315343
rs74315343
NPHS2
5 0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs755972674
rs755972674
NPHS2
2 0.925 0.080 1 179561355 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs763818901
rs763818901
NPHS2 ; AXDND1
2 0.925 0.080 1 179551361 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs778055996
rs778055996
NPHS2
2 0.925 0.080 1 179557122 stop gained G/A;C snv 1.2E-05; 8.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs1057517164
rs1057517164
NPHS2 ; AXDND1
2 0.925 0.080 1 179552617 stop gained G/A 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: rs1477180313
rs1477180313
NPHS2
1 1.000 0.080 1 179575777 stop gained C/A;T snv 9.9E-06 0.700 0
dbSNP: rs869312746
rs869312746
NPHS2
2 0.925 0.080 1 179575750 stop gained G/A snv 0.700 0
dbSNP: rs530318579
rs530318579
NPHS2
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.800 1.000 24 2000 2015
dbSNP: rs74315342
rs74315342
NPHS2
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.800 1.000 24 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 0.800 1.000 22 2000 2015
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.810 1.000 20 2000 2015
dbSNP: rs74315347
rs74315347
NPHS2
2 0.925 0.080 1 179557227 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 20 2000 2015
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: rs780761368
rs780761368
NPHS2 ; AXDND1
1 1.000 0.080 1 179552625 missense variant G/A snv 4.0E-06 3.5E-05 0.800 1.000 16 2000 2015
dbSNP: rs786204583
rs786204583
NPHS2
2 0.925 0.080 1 179559711 missense variant G/A snv 0.800 1.000 16 2000 2015
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: rs12240233
rs12240233
NPHS2
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
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: rs200913299
rs200913299
NPHS2
1 1.000 0.080 1 179564779 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 14 2000 2015
dbSNP: rs561887984
rs561887984
NPHS2
1 1.000 0.080 1 179575780 missense variant C/T snv 2.0E-05 2.4E-04 0.700 1.000 14 2000 2015