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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
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: 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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2011 2011
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: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
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: 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: 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: rs74315342
rs74315342
NPHS2
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2007 2007
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: rs530318579
rs530318579
NPHS2
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
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: rs753350907
rs753350907
PAX2
5 0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
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: rs74315344
rs74315344
NPHS2
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs761613959
rs761613959
MUC1
4 0.851 0.080 1 155187356 stop gained G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs6508
rs6508
WT1-AS
3 0.882 0.160 11 32438918 non coding transcript exon variant G/A snv 8.3E-02 0.16 0.010 1.000 1 2005 2005