rs4930319
This is a downstream gene variant variant in the OVOL1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
glomerular filtration rate
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 3.0e-28
N 1,004,040
Large GWAS
European
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 G
OR 0.06
p 1.0e-13
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 G
OR 0.06
p 1.0e-12
N 435,154
Major Consortium StudyLarge GWAS
European
serum creatinine 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 0.03
p 6.0e-26
N 600,139
Major Consortium StudyLarge GWAS
multi-ancestry
About OVOL1
This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]
View all OVOL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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