rs4075958

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

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GWAS Catalog Trait Associations (4)

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

hematocrit

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 0.02
p 3.0e-36
N 928,679
Large GWAS
multi-ancestry
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 0.02
p 7.0e-26
N 503,490
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 5.0e-30
N 408,112
Large GWAS
European

erythrocyte count

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 0.02
p 2.0e-34
N 928,679
Large GWAS
multi-ancestry
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 0.02
p 2.0e-30
N 503,987
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 9.0e-29
N 408,112
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 1.0e-27
N 408,112
Large GWAS
European
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 0.02
p 2.0e-23
N 502,921
Large GWAS
multi-ancestry
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele A
OR —
β 0.027
p 5.0e-13
N 52,141
Large GWAS
European

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.67
p 1.0e-16
N 58,406
Large GWAS
East Asian
Hughes O et al. “Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas.” Cell Genomics 4(1):100468 (2024)
Allele A
OR 5.73
p 1.0e-8
N 145,732
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variations in regulator of G‐protein signaling (RGS) confer risk of bladder cancer
AssociationN=1,606Eugene K. Lee et al.(2013)· Cancer

Case-control study of 803 bladder cancer patients and 803 healthy controls examining 95 SNPs in 17 RGS (Regulator of G-Protein Signaling) pathway genes. Rs10759 in RGS4 showed the strongest association with reduced bladder cancer risk (OR 0.77, P<0.001), and cumulative analysis of 5 significant SNPs yielded OR 4.13 (95% CI 2.14-7.98) for high-risk genotype combinations. Eleven and thirteen SNPs were associated with recurrence and progression in non-muscle invasive bladder cancer (NMIBC); rs2344673 in RGS5 was most significant for death in muscle-invasive bladder cancer (MIBC), with median survival of 13.3 months vs 81.9 months.

Traits studied:Bladder cancer death/survivalBladder cancer progressionBladder cancer recurrenceBladder cancer riskMuscle-invasive bladder cancer (MIBC)Non-muscle invasive bladder cancer (NMIBC)
PubMedDOIMetascience Observatory

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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