rs4744712
This is a downstream gene variant variant in the PIP5K1B gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
glomerular filtration rate
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele C
OR 20.77
p 8.0e-96
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele C
OR 0.00
p 1.0e-29
N 1,004,040
Large GWAS
European
Mahajan A et al. “Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.” American Journal of Human Genetics 99(3):636-646 (2016)
Allele C
OR 0.75
p 3.0e-11
N 71,638
Large GWAS
multi-ancestry
phosphate measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 7.0e-20
N 394,642
Large GWAS
European
serum creatinine amount, glomerular filtration rate
Pattaro C et al. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nature Communications 7:10023 (2016)
Allele A
OR 0.01
p 4.0e-15
N 133,413
Large GWAS
multi-ancestry
chronic kidney disease, serum creatinine amount
Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele A
OR 0.01
p 8.0e-14
N 67,093
Large GWAS
European
urate measurement
Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele A
OR 0.01
p 5.0e-13
N 454,183
Meta-analysisLarge GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.01
p 3.0e-8
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
fibroblast growth factor 23 level
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR —
β 0.059
p 2.0e-12
N 21,758
Large GWAS
European
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 A
OR 0.02
p 5.0e-14
N 585,125
Major Consortium StudyLarge GWAS
multi-ancestry
serum creatinine amount
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 4.0e-52
N 494,370
Large GWAS
multi-ancestry
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 0.03
p 3.0e-21
N 153,950
Large GWAS
East Asian
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.02
p 1.0e-11
N 110,051
Large GWAS
European
About PIP5K1B
Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2025]
View all PIP5K1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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