rs2721173
This is a upstream gene variant variant 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.
Red cell distribution width
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p 1.0e-16
N 563,352
Large GWAS
multi-ancestry
intelligence
Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele T
OR 0.02
p 1.0e-14
N 248,482
Large GWAS
European
Savage JE et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nature Genetics 50(7):912-919 (2018)
Allele T
OR 5.94
p 3.0e-9
N 269,867
Meta-analysisLarge GWAS
European
cognitive function measurement
Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele T
OR 0.02
p 6.0e-9
N 257,841
Large GWAS
European
cognitive function measurement, self reported educational attainment
Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)
Allele C
OR 0.04
p 7.0e-9
N 257,700
Large GWAS
European
household income
Hill WD et al. “Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income.” Nature Communications 10(1):5741 (2019)
Allele T
OR 0.01
p 7.0e-9
N 505,541
Large GWAS
European, NR
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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