LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.800 GeneticVariation UNIPROT An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816 2015
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.800 GeneticVariation UNIPROT Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs374343844
rs374343844
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 GeneticVariation UNIPROT An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816 2015
dbSNP: rs374343844
rs374343844
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 GeneticVariation UNIPROT Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
dbSNP: rs1558655670
rs1558655670
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		TTTCTCATCA 0.700 CausalMutation CLINVAR
dbSNP: rs886037616
rs886037616
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		T 0.700 CausalMutation CLINVAR