Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909486
rs121909486
LMX1B
0.800 GeneticVariation UNIPROT Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. 11668639

2001
dbSNP: rs121909488
rs121909488
LMX1B
0.800 GeneticVariation UNIPROT Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. 11668639

2001
dbSNP: rs121909491
rs121909491
LMX1B
0.800 GeneticVariation UNIPROT Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. 11668639

2001
dbSNP: rs121909486
rs121909486
LMX1B
0.800 GeneticVariation UNIPROT Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 10571942

1999
dbSNP: rs121909488
rs121909488
LMX1B
0.800 GeneticVariation UNIPROT Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 10571942

1999
dbSNP: rs121909491
rs121909491
LMX1B
0.800 GeneticVariation UNIPROT Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. 10571942

1999
dbSNP: rs121909486
rs121909486
LMX1B
0.800 GeneticVariation UNIPROT Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 9590287

1998
dbSNP: rs121909486
rs121909486
LMX1B
0.800 GeneticVariation UNIPROT Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 9618165

1998
dbSNP: rs121909486
rs121909486
LMX1B
0.800 GeneticVariation UNIPROT Mutation analysis of LMX1B gene in nail-patella syndrome patients. 9837817

1998
dbSNP: rs121909488
rs121909488
LMX1B
0.800 GeneticVariation UNIPROT Mutation analysis of LMX1B gene in nail-patella syndrome patients. 9837817

1998
dbSNP: rs121909488
rs121909488
LMX1B
0.800 GeneticVariation UNIPROT Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 9590287

1998
dbSNP: rs121909488
rs121909488
LMX1B
0.800 GeneticVariation UNIPROT Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 9618165

1998
dbSNP: rs121909491
rs121909491
LMX1B
0.800 GeneticVariation UNIPROT Mutation analysis of LMX1B gene in nail-patella syndrome patients. 9837817

1998
dbSNP: rs121909491
rs121909491
LMX1B
0.800 GeneticVariation UNIPROT Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. 9618165

1998
dbSNP: rs121909491
rs121909491
LMX1B
0.800 GeneticVariation UNIPROT Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 9590287

1998
dbSNP: rs121909486
rs121909486
LMX1B
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909488
rs121909488
LMX1B
T 0.800 CausalMutation CLINVAR

dbSNP: rs121909491
rs121909491
LMX1B
A 0.800 CausalMutation CLINVAR

dbSNP: rs864621969
rs864621969
LMX1B ; LOC105376277
G 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs1057516196
rs1057516196
LMX1B ; LOC105376277
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167362
rs1114167362
LMX1B
G 0.700 CausalMutation CLINVAR

dbSNP: rs121909487
rs121909487
LMX1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909489
rs121909489
LMX1B ; LOC105376277
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909490
rs121909490
LMX1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909492
rs121909492
LMX1B
T 0.700 CausalMutation CLINVAR