ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
Disease: Focal glomerulosclerosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908415
rs121908415 		0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.050 1.000 5 2008 2019
dbSNP: rs121908416
rs121908416 		0.925 0.080 19 38710299 missense variant C/T snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2008 2019
dbSNP: rs112545413
rs112545413 		0.925 0.080 19 38717102 missense variant G/A snv 1.2E-02 9.6E-03
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121908417
rs121908417 		0.925 0.080 19 38710307 missense variant T/C snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019