Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs267602852
rs267602852
WT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs530391015
rs530391015
INF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs71785313
rs71785313
APOL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs75462234
rs75462234
PAX2
CG 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs61747728
rs61747728
NPHS2
0.090 GeneticVariation BEFREE Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids. 12464671

2002
dbSNP: rs61747728
rs61747728
NPHS2
0.090 GeneticVariation BEFREE The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls. 12707396

2003
dbSNP: rs1267969615
rs1267969615
ACE
0.010 GeneticVariation BEFREE We analyzed the influence of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and angiotensin-II-type-1 receptor (AT1R) A1166C genetic polymorphisms on the clinical course of focal segmental glomerulosclerosis (FSGS). 14610337

2003
dbSNP: rs699
rs699
AGT
0.010 GeneticVariation BEFREE We analyzed the influence of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and angiotensin-II-type-1 receptor (AT1R) A1166C genetic polymorphisms on the clinical course of focal segmental glomerulosclerosis (FSGS). 14610337

2003
dbSNP: rs1800471
rs1800471
TGFB1
0.010 GeneticVariation BEFREE Our results indicate that TGF-beta(1) gene Arg(25)-->Pro, TNF alpha gene G-308A and IL-6 gene G-174C polymorphisms are not risk factors or markers of progression in focal segmental glomerulosclerosis. 15308875

2004
dbSNP: rs1799937
rs1799937
WT1
0.010 GeneticVariation BEFREE Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group. 15687485

2005
dbSNP: rs2234591
rs2234591
WT1
0.010 GeneticVariation BEFREE Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group. 15687485

2005
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
0.010 GeneticVariation BEFREE Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group. 15687485

2005
dbSNP: rs6508
rs6508
WT1-AS
0.010 GeneticVariation BEFREE Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group. 15687485

2005
dbSNP: rs61747728
rs61747728
NPHS2
0.090 GeneticVariation BEFREE The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. 16481888

2006
dbSNP: rs1241977606
rs1241977606
ALB
0.010 GeneticVariation BEFREE The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. 16481888

2006
dbSNP: rs74315342
rs74315342
NPHS2
0.010 GeneticVariation BEFREE R138Q carriers were more frequent among FSGS cases relative to controls (OR = 4.9, P = 0.06), but heterozygosity for the other four missense mutations was equally distributed among FSGS cases and controls. 17942957

2007
dbSNP: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.050 GeneticVariation BEFREE Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution. 18164029

2008
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.020 GeneticVariation BEFREE Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution. 18164029

2008
dbSNP: rs1422329310
rs1422329310
PLCE1
0.010 GeneticVariation BEFREE We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS. 18443213

2008
dbSNP: rs61747728
rs61747728
NPHS2
0.090 GeneticVariation BEFREE Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). 18726620

2008
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
0.010 GeneticVariation BEFREE Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). 18726620

2008
dbSNP: rs748203170
rs748203170
NPHS2 ; AXDND1
0.010 GeneticVariation BEFREE Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously. 18823551

2008