Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs202047589
rs202047589
HOGA1
0.925 0.160 10 97599780 missense variant C/T snv 4.4E-05 7.0E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2017 2017
dbSNP: rs281874657
rs281874657
COL4A5
0.925 0.160 X 108586717 stop gained C/T snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2017 2017
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2006 2006
dbSNP: rs367825197
rs367825197
PODXL
0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2019 2019
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2019 2019
dbSNP: rs538166970
rs538166970
ACE
0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2014 2014
dbSNP: rs61747728
rs61747728
NPHS2
0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2006 2006
dbSNP: rs7222094
rs7222094
MAP3K14
0.882 0.120 17 45290287 intron variant T/C snv 0.54
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2011 2011
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2015 2015
dbSNP: rs74315289
rs74315289
BSND
0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2011 2011
dbSNP: rs7456421
rs7456421
HIPK2
0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 < 0.001 1 2013 2013
dbSNP: rs7493
rs7493
PON2
0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2006 2006
dbSNP: rs7582694
rs7582694
STAT4
0.763 0.400 2 191105394 intron variant C/G snv 0.77
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2001 2001
dbSNP: rs867394500
rs867394500
ACE
0.851 0.080 17 63477301 missense variant G/T snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2003 2003