rs10510628
This is a intron variant variant in the RBMS3 gene.
▶Research that mentions this SNP (1)
▶Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screeningAssociationN=1,000Zhang YP et al.(2010)· Osteoporosis International
A replication study of 139 SNPs from three prior genome-wide association studies of bone mineral density in an independent sample of 1,000 unrelated US whites confirmed 38 SNPs (27% replication rate). Two SNPs achieved the most significant replication: rs3762397 in NR5A2 and rs3736228 in LRP5. Ten SNPs achieved combined p-values less than 3.6×10⁻⁴ across datasets, including rs3736228 (LRP5) with combined p=5.3×10⁻¹² for spinal BMD.
About RBMS3
This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
View all RBMS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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