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: 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: 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: 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: rs121908417
rs121908417
ACTN4 ; LOC107985291
2 0.925 0.080 19 38710307 missense variant T/C snv 0.010 1.000 1 2019 2019
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: 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: rs397518473
rs397518473
ALG13
1 1.000 0.080 X 111687924 missense variant AC/TT mnv 0.010 < 0.001 1 2017 2017
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: rs71785313
rs71785313
APOL1
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.700 0
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: 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: 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: 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: rs1003629254
rs1003629254
EIF2AK3
2 0.925 0.080 2 88595599 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1186292917
rs1186292917
INF2
1 1.000 0.080 14 104703420 frameshift variant GC/- delins 0.010 1.000 1 2018 2018
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: rs754313620
rs754313620
INF2
2 0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: rs4806213
rs4806213
NPHS1
1 1.000 0.080 19 35831699 missense variant T/C snv 9.7E-02 0.11 0.010 1.000 1 2019 2019