rs11746443

This is a regulatory region variant variant in the RGS14 gene.

GWAS Catalog Trait Associations (9)

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

blood urea nitrogen 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 G
OR 0.03
p 1.0e-20
N 599,920
Major Consortium StudyLarge GWAS
multi-ancestry

urolithiasis

Tanikawa C et al. Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. Journal of the American Society of Nephrology : Jasn 30(5):855-864 (2019)
Allele A
OR 1.15
p 2.0e-19
N 198,769
Large GWAS
East Asian

glomerular filtration rate

Allele A
OR 0.68
p 8.0e-17
N 58,406
Large GWAS
East Asian

triglyceride measurement

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 G
OR 0.03
p 1.0e-15
N 391,797
Major Consortium StudyLarge GWAS
European

sclerostin measurement

Allele A
OR 0.04
p 5.0e-14
N 47,745
Large GWAS
European

metabolite measurement

Allele A
OR 0.08
p 8.0e-12
N 14,296
Large GWAS
European

insulin-like growth factor-binding protein 4 level

Allele A
OR 0.04
p 9.0e-12
N 47,745
Large GWAS
European

psoriasis

Allele A
OR 0.09
p 6.0e-10
N 863,080
Large GWAS
European

About RGS14

This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

View all RGS14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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