rs10404257
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
Kidney Failure, Chronic
0.010
GeneticVariation
BEFREE
SNPs were tested fo r interaction with markers in the APOL1 gene, previously associated with non-DM ESRD in AAs, and rs10404257 was modestly associated (p = 0.0261, additive model).
22965004
2012
rs121908415
ACTN4;LOC107985291
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
rs121908415
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
18436095
2008
rs121908415
ACTN4;LOC107985291
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
rs121908415
ACTN4;LOC107985291
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
rs121908415
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
10700177
2000
rs121908415
ACTN4;LOC107985291
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
rs121908415
ACTN4;LOC107985291
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
rs121908415
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
G
0.800
CausalMutation
CLINVAR
rs121908416
ACTN4;LOC107985291
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
rs121908416
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
10700177
2000
rs121908416
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
18436095
2008
rs121908416
ACTN4;LOC107985291
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
rs121908416
ACTN4;LOC107985291
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
rs121908416
ACTN4;LOC107985291
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
rs121908416
ACTN4;LOC107985291
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
rs121908416
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
T
0.800
CausalMutation
CLINVAR
rs121908417
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
10700177
2000
rs121908417
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
0.800
GeneticVariation
UNIPROT
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
18436095
2008
rs121908417
ACTN4;LOC107985291
Focal segmental glomerulosclerosis 1
C
0.800
CausalMutation
CLINVAR
rs121908417
ACTN4;LOC107985291
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
rs121908417
ACTN4;LOC107985291
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
rs121908417
ACTN4;LOC107985291
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
rs121908417
ACTN4;LOC107985291
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
rs121908417
ACTN4;LOC107985291
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