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: rs2239785
rs2239785
APOL1
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.700 1.000 1 2010 2010
dbSNP: rs119473033
rs119473033
SMARCAL1
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs267602852
rs267602852
WT1
7 0.827 0.160 11 32417631 missense variant G/A snv 0.700 0
dbSNP: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs71785313
rs71785313
APOL1
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.700 0
dbSNP: rs748106387
rs748106387
SMARCAL1
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs75462234
rs75462234
PAX2
4 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.090 0.778 9 2002 2018
dbSNP: rs121908415
rs121908415
ACTN4 ; LOC107985291
2 0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06 0.050 1.000 5 2008 2019
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
2 0.925 0.080 19 38710299 missense variant C/T snv 0.020 1.000 2 2008 2019
dbSNP: rs1003629254
rs1003629254
EIF2AK3
2 0.925 0.080 2 88595599 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs112545413
rs112545413
ACTN4 ; LOC107985291
2 0.925 0.080 19 38717102 missense variant G/A snv 1.2E-02 9.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs1131692055
rs1131692055
PAX2
2 0.925 0.080 10 100781314 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs114896482
rs114896482
NPHS1
3 0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs1186292917
rs1186292917
INF2
1 1.000 0.080 14 104703420 frameshift variant GC/- delins 0.010 1.000 1 2018 2018
dbSNP: rs121434390
rs121434390
TRPC6
2 0.925 0.080 11 101504634 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121434395
rs121434395
TRPC6
2 0.925 0.080 11 101453062 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
2 0.925 0.080 19 38710307 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1241977606
rs1241977606
ALB
2 0.925 0.080 4 73416326 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1283740147
rs1283740147
DMPK
1 1.000 0.080 19 45777777 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1422329310
rs1422329310
PLCE1
2 0.925 0.280 10 94265844 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008