rs4767860

This is a intron variant variant in the PTPN11 gene.

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GWAS Catalog Trait Associations (2)

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

carbohydrate intake measurement

Nakamura Y et al. “A genome-wide association study on adherence to low-carbohydrate diets in Japanese.” European Journal of Clinical Nutrition 76(8):1103-1110 (2022)

Allele A

OR —

p 2.0e-10

N 14,076

Large GWAS

East Asian

neuroimaging measurement

Fu J et al. “Cross-ancestry genome-wide association studies of brain imaging phenotypes.” Nature Genetics 56(6):1110-1120 (2024)

Allele A

OR 0.09

p 6.0e-10

N 7,058

Large GWAS

East Asian

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ClinVar annotation

Benign★☆☆☆

2 submitters

not provided; Uterine corpus endometrial carcinoma; Sarcoma; Gastric cancer; Uterine carcinosarcoma; Cholangiocarcinoma; Thymoma; Hepatocellular carcinoma; Lung cancer

View on ClinVar →

About PTPN11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]