rs599550

This variant is located in the TCF4 gene.

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GWAS Catalog Trait Associations (6)

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

feeling "fed-up" measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele A
OR 7.60
p 3.0e-14
N 374,971
Large GWAS
European

systolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.28
p 5.0e-13
N 459,777
Large GWAS
multi-ancestry
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.21
p 1.0e-9
N 1,028,980
Large GWAS
multi-ancestry

loneliness measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele A
OR 6.53
p 7.0e-11
N 376,352
Large GWAS
European

post-traumatic stress disorder

Wendt FR et al. “Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder.” Molecular Psychiatry 27(4):2206-2215 (2022)
Allele A
OR 0.02
p 2.0e-10
N 497,803
Large GWAS
European

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.17
p 7.0e-10
N 459,777
Large GWAS
multi-ancestry

post-traumatic stress disorder symptom measurement

Stein MB et al. “Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program.” Nature Genetics 53(2):174-184 (2021)
Allele A
OR 0.40
p 5.0e-9
N 237,725
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About TCF4

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

View all TCF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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