rs2979469

This is a intron variant variant in the RBPMS gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.03
p 4.0e-51
N 544,127
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 3.0e-26
N 408,112
Large GWAS
European

mean corpuscular hemoglobin

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.03
p 3.0e-9
N 128,028
Large GWAS
East Asian

mosaic loss of chromosome Y measurement

Terao C et al. “GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.” Nature Communications 10(1):4719 (2019)
Allele C
OR —
β 0.035
p 5.0e-8
N 95,380
Large GWAS
East Asian

About RBPMS

This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

View all RBPMS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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