rs56235845

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

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GWAS Catalog Trait Associations (8)

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

bladder calculus

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 T
OR 0.14
p 2.0e-80
N 433,456
Major Consortium StudyLarge GWAS
European

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 T
OR 0.14
p 8.0e-73
N 435,154
Major Consortium StudyLarge GWAS
European
Howles SA et al. “Genetic variants of calcium and vitamin D metabolism in kidney stone disease.” Nature Communications 10(1):5175 (2019)
Allele T
OR 1.16
p 3.0e-21
N 429,501
Large GWAS
multi-ancestry
Lovegrove CE et al. “Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.” Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele T
OR 1.16
p 5.0e-20
N 397,323
Large GWAS
European

intact parathyroid hormone measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 1.0e-27
N 47,745
Large GWAS
European

ureterolithiasis

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 T
OR 0.16
p 1.0e-25
N 445,070
Major Consortium StudyLarge GWAS
European

hemoglobin 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 T
OR 0.02
p 4.0e-19
N 407,894
Major Consortium StudyLarge GWAS
European
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.018
p 7.0e-16
N 684,122
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 1.0e-9
N 172,925
Large 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 T
OR 0.02
p 5.0e-13
N 581,827
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR 0.02
p 2.0e-19
N 600,803
Major Consortium StudyLarge GWAS
multi-ancestry

hematocrit

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 T
OR 0.02
p 4.0e-19
N 407,854
Major Consortium StudyLarge GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 9.0e-11
N 173,039
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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