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rs2230419

From SNPedia

Orientationminus
Stabilizedminus
Make rs2230419(A;A)
Make rs2230419(A;G)
Make rs2230419(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position225419442
GeneLBR
is asnp
is mentioned by
dbSNPrs2230419
ebirs2230419
HLIrs2230419
Exacrs2230419
Varsomers2230419
Maprs2230419
PheGenIrs2230419
hapmaprs2230419
1000 genomesrs2230419
hgdprs2230419
ensemblrs2230419
gopubmedrs2230419
geneviewrs2230419
scholarrs2230419
googlers2230419
pharmgkbrs2230419
gwascentralrs2230419
openSNPrs2230419
23andMers2230419
23andMe allrs2230419
SNP Nexus

SNPshotrs2230419
SNPdbers2230419
MSV3drs2230419
GWAS Ctlgrs2230419
GMAF0.2231
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene LBR
allele T
frequency 0.833
sift TOLERATED
HuRef 1103675352043
Disease Association 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
LBR-S154N
aa_change Ser154Asn
aa_change_short S154N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.704034
summary