Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. 23014460

2013
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. 23890478

2013
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337

2012
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778

2012
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095

2008
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029

2008
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177

2000
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		C 0.800 CausalMutation CLINVAR