rs112735431

This is a variant in the RNF213 gene that changes a arginine to an threonine.

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GWAS Catalog Trait Associations (9)

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

pulse pressure measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.21
p 2.0e-27
N 145,445
Large GWAS
East Asian

mean arterial pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.13
p 8.0e-11
N 506,365
Large GWAS
multi-ancestry

Arterial stenosis

Dofuku S et al. “Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study.” Translational Stroke Research 14(3):322-333 (2023)
Allele A
OR 12.30
p 8.0e-10
N 715
Small GWAS
East Asian

Calcium channel blocker use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.29
p 9.0e-10
N 178,726
Large GWAS
East Asian

Vasodilators used in cardiac diseases use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.43
p 2.0e-9
N 178,726
Large GWAS
East Asian

angina pectoris

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.75
p 1.0e-9
N 608,573
Large GWAS
multi-ancestry

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.28
p 2.0e-65
N 153,950
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.19
p 7.0e-23
N 145,505
Large GWAS
East Asian
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ClinVar annotation

Uncertain Significance★☆☆☆
13 submitters28 publications

Moyamoya disease 2; not provided; Inborn genetic diseases

View on ClinVar →

About RNF213

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

View all RNF213 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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