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: 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: 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: 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: 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: 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: rs748203170
rs748203170
NPHS2 ; AXDND1
1 1.000 0.080 1 179551346 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2008 2008
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: rs920479356
rs920479356
NPHS2
1 1.000 0.080 1 179575836 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008
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: 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: 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: 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: 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: 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: 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: rs748106387
rs748106387
SMARCAL1
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 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: 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: 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: 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: rs121434390
rs121434390
TRPC6
2 0.925 0.080 11 101504634 missense variant G/T snv 0.010 1.000 1 2010 2010