Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912488
rs121912488
LAMB2
0.810 GeneticVariation BEFREE A different mutation at this codon (R246W), which is highly conserved through evolution, has recently been reported as causing Pierson syndrome. 16912710

2006
dbSNP: rs121912488
rs121912488
LAMB2
0.810 GeneticVariation UNIPROT A different mutation at this codon (R246W), which is highly conserved through evolution, has recently been reported as causing Pierson syndrome. 16912710

2006
dbSNP: rs121912488
rs121912488
LAMB2
0.810 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004
dbSNP: rs121912488
rs121912488
LAMB2
A 0.810 CausalMutation CLINVAR

dbSNP: rs888830612
rs888830612
LAMB2
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940

2010
dbSNP: rs121912491
rs121912491
LAMB2
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710

2006
dbSNP: rs121912492
rs121912492
LAMB2
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710

2006
dbSNP: rs267607207
rs267607207
LAMB2
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710

2006
dbSNP: rs267607208
rs267607208
LAMB2
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710

2006
dbSNP: rs121912491
rs121912491
LAMB2
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004
dbSNP: rs121912492
rs121912492
LAMB2
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004
dbSNP: rs267607207
rs267607207
LAMB2
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004
dbSNP: rs267607208
rs267607208
LAMB2
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004
dbSNP: rs121912489
rs121912489
LAMB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121912490
rs121912490
LAMB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553776921
rs1553776921
LAMB2 ; USP19
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1560063136
rs1560063136
LAMB2 ; USP19
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1560072794
rs1560072794
LAMB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs730880125
rs730880125
LAMB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs746230397
rs746230397
LAMB2
0.010 GeneticVariation BEFREE Here, we investigated an LN domain missense mutation, LAMB2-S80R, which was discovered in a patient with Pierson syndrome and unusually late onset of proteinuria. 29263159

2018