rs340029

This is a intron variant variant in the RORA gene.

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GWAS Catalog Trait Associations (5)

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

serum alanine aminotransferase amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 2.0e-21
N 406,784
Major Consortium StudyLarge GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 1.0e-19
N 1,122,049
Large GWAS
European

interleukin-1 receptor-like 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 8.0e-14
N 47,745
Large GWAS
European

C-reactive protein measurement

Dehghan A et al. “Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.” Circulation 123(7):731-8 (2011)
Allele T
OR 0.03
p 4.0e-9
N 66,185
Meta-analysisLarge GWAS
European

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 4.0e-11
N 581,830
Major Consortium StudyLarge GWAS
multi-ancestry

About RORA

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

View all RORA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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