rs801011

This is a intron variant variant in the GTF2IRD2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

heart failure

Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)
Allele T
OR 0.05
p 2.0e-15
N 2,358,556
Large GWAS
multi-ancestry

atrial fibrillation

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 C
OR 0.06
p 2.0e-13
N 622,007
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR —
p 5.0e-29
N 563,352
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 2.0e-25
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 5.0e-22
N 394,642
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 5.0e-18
N 171,529
Large GWAS
European
Pilling LC et al. “Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.” Plos One 12(9):e0185083 (2017)
Allele T
OR 0.03
p 2.0e-12
N 116,666
Large GWAS
European

About GTF2IRD2

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all GTF2IRD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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