rs4244612
This variant is located in the RECQL4 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
aspartate aminotransferase to alanine aminotransferase ratio
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.03
p 2.0e-30
N 354,455
Major Consortium StudyLarge GWAS
multi-ancestry
serum alanine aminotransferase amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 9.0e-20
N 355,729
Major Consortium StudyLarge GWAS
multi-ancestry
alkaline phosphatase measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.01
p 2.0e-9
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
sex hormone-binding globulin measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 3.0e-9
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry
intelligence
Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)
Allele C
OR 5.57
p 3.0e-8
N 300,486
Large GWAS
European
▶ClinVar annotation
About RECQL4
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
View all RECQL4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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