rs4074995

This is a intron variant variant in the RGS14 gene.

GWAS Catalog Trait Associations (7)

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

nephrolithiasis

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 0.15
p 2.0e-57
N 618,588
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Allele A
OR 0.02
p 1.0e-23
N 394,642
Large GWAS
European

blood parathyroid hormone amount

Robinson-Cohen C et al. Genetic Variants Associated with Circulating Parathyroid Hormone. Journal of the American Society of Nephrology : Jasn 28(5):1553-1565 (2017)
Allele G
OR 0.03
p 3.0e-23
N 22,653
Large GWAS
European

glomerular filtration rate

Allele A
OR 0.68
p 6.0e-17
N 58,406
Large GWAS
East Asian

psoriasis

Allele A
OR 0.08
p 2.0e-11
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

blood sodium bicarbonate 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 0.02
p 5.0e-12
N 585,125
Major Consortium StudyLarge GWAS
multi-ancestry

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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