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: 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
dbSNP: rs149117087
rs149117087
COL4A4
1 1.000 0.080 2 227022069 missense variant T/A snv 8.5E-04 2.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2004 2004
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2071327
rs2071327
NPHS1
1 1.000 0.080 19 35831368 synonymous variant C/T snv 0.40 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2234591
rs2234591
WT1
2 0.925 0.080 11 32399873 intron variant T/C snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
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: rs267606879
rs267606879
INF2
2 0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs267607555
rs267607555
LMNA
6 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3802829
rs3802829
TRPC6
2 0.925 0.080 11 101583461 missense variant G/A snv 8.2E-02 7.0E-02 0.010 1.000 1 2012 2012