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: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.925 0.080 19 38710299 missense variant C/T snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
0.925 0.080 19 38710307 missense variant T/C snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs201128110
rs201128110
ACTN4 ; LOC107985291
1.000 0.080 19 38718062 missense variant G/A snv 1.7E-04 2.9E-04
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.700 1.000 7 2000 2013
dbSNP: rs34105297
rs34105297
ACTN4
19 38694029 intron variant C/G snv 5.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs112545413
rs112545413
ACTN4 ; LOC107985291
0.925 0.080 19 38717102 missense variant G/A snv 1.2E-02 9.6E-03
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.700 0
dbSNP: rs1568723797
rs1568723797
ACTN4 ; LOC107985291
1.000 0.080 19 38704994 missense variant T/C snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.700 0
dbSNP: rs1568725026
rs1568725026
ACTN4 ; LOC107985291
1.000 0.080 19 38706067 inframe deletion TCT/- delins
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.700 0
dbSNP: rs878853159
rs878853159
ACTN4 ; LOC107985291
1.000 0.080 19 38708128 missense variant G/A snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.700 0
dbSNP: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.050 1.000 5 2008 2019
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.925 0.080 19 38710299 missense variant C/T snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.020 1.000 2 2008 2019
dbSNP: rs10404257
rs10404257
ACTN4
0.925 0.080 19 38645846 upstream gene variant G/A snv 0.50
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2012 2012
dbSNP: rs10404257
rs10404257
ACTN4
0.925 0.080 19 38645846 upstream gene variant G/A snv 0.50
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2012 2012
dbSNP: rs112545413
rs112545413
ACTN4 ; LOC107985291
0.925 0.080 19 38717102 missense variant G/A snv 1.2E-02 9.6E-03
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
0.925 0.080 19 38710307 missense variant T/C snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 1.000 1 2019 2019