rs56269749

This variant is located in the THADA gene.

ClinVar annotation

Benign★★★
4 submitters2 publications

not provided; THADA-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Cervical cancer; Thymoma; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Lung cancer; Malignant lymphoma, large B-cell, diffuse; Gastric cancer; Ovarian cancer

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About THADA

This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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