{{Rsnum
|rsid=2230419
|Gene=LBR
|Chromosome=1
|position=225419442
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2231
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LBR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 73.5 | 23.9 | 2.7
| HCB | 95.6 | 4.4 | 0.0
| JPT | 92.9 | 7.1 | 0.0
| YRI | 8.2 | 46.6 | 45.2
| ASW | 23.2 | 48.2 | 28.6
| CHB | 95.6 | 4.4 | 0.0
| CHD | 87.2 | 12.8 | 0.0
| GIH | 44.0 | 47.0 | 9.0
| LWK | 19.1 | 52.7 | 28.2
| MEX | 81.0 | 17.2 | 1.7
| MKK | 35.9 | 48.7 | 15.4
| TSI | 65.7 | 31.4 | 2.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=2230419
|allele=T
|frequency=0.833
|uid=1103675352043
|type=homozygous_SNP
|hugo=LBR
|ensembl gene=ENSG00000143815
|ensembl transcript=ENST00000272163
|sift=TOLERATED
|disease=Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) (MIM:215140); also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short- limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations.
}}

{{GET Evidence
|gene=LBR
|aa_change=Ser154Asn
|aa_change_short=S154N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2230419
|overall_frequency_n=7574
|overall_frequency_d=10758
|overall_frequency=0.704034
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=76
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}