rs11066325

This is a intron variant variant in the PTPN11 gene.

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GWAS Catalog Trait Associations (11)

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

high density lipoprotein cholesterol measurement

Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele C
OR 1.37
p 3.0e-43
N 58,701
Large GWAS
East Asian
Liu M et al. “Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.” Clinical Nutrition (edinburgh, Scotland) 39(3):942-949 (2020)
Allele C
OR 1.31
p 3.0e-13
N 8,839
Large GWAS
East Asian

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.24
p 8.0e-23
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry

bilirubin measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.04
p 1.0e-15
N 124,341
Large GWAS
East Asian

BMI-adjusted waist-hip ratio

Cho HW et al. “A Genome-Wide Association Study of Novel Genetic Variants Associated With Anthropometric Traits in Koreans.” Frontiers in Genetics 12:669215 (2021)
Allele C
OR 0.00
p 7.0e-13
N 5,472
Large GWAS
East Asian

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]

View all PTPN11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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