rs1043953

This is a regulatory region variant variant in the TMEM43 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.01
p 2.0e-14
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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ClinVar annotation

Likely Benign★☆☆☆
2 submitters1 publication

Arrhythmogenic right ventricular cardiomyopathy (ARVD); Xeroderma pigmentosum (XP)

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About TMEM43

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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