rs77753011
This is a intron variant variant in the RPH3A gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 1.23
p 7.0e-34
N 58,701
Large GWAS
East Asian
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 T
OR 0.71
p 2.0e-13
N 58,406
Large GWAS
East Asian
body weight
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 3.0e-13
N 525,535
Large GWAS
multi-ancestry
blood urea nitrogen amount
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 T
OR 0.02
p 4.0e-13
N 58,406
Large GWAS
East Asian
low density lipoprotein cholesterol measurement
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 1.66
p 1.0e-10
N 58,701
Large GWAS
East Asian
uric acid measurement
Cho SK et al. “Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.” Scientific Reports 10(1):9179 (2020)
Allele T
OR 0.13
p 4.0e-8
N 6,881
Large GWAS
East Asian
type 2 diabetes mellitus
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele G
OR 1.08
p 2.0e-8
N 492,192
Large GWAS
multi-ancestry
About RPH3A
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
View all RPH3A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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