rs115646634 - EHBP1

Magnitude 2.0 · 1 study on file

Reported associations

• Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients - Pediatric reports (2021) · Avasthi KK, Muthuswamy S, Asim A, Agarwal A, Agarwal S · PubMed 34941638

  ABSTRACT: Background: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with modulatory effects of NSCL/P formation in Chinese and Iranian populations. We aimed to identify the susceptibility of single-nucleotide polymorphisms (SNPs) to nonsyndromic cleft lip with or without palate in the Indian population. Material and Methods: The present study was conducted on NSCL/P cases and controls. Genomic DNA was extracted from peripheral blood and Axiom- Precision Medicine Research Array (PMRA) was performed. The Axiom-PMRA covers 902,527 markers and several thousand novel risk variants. Quality control-passed sample

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