rs12336160 - CHMP5 - NFX1

Magnitude 4.5 · 2 studies on file

Reported associations

• A saturated map of common genetic variants associated with human height - Unknown journal (n.d.) · Unknown authors · PubMed 36224396

  ABSTRACT: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation

• Genome Wide Association Study to Identify Single Nucleotide Polymorphisms (SNPs) Associated with the Development of Erectile Dysfunction in African-American Men Following Radiotherapy for Prostate Cancer - Unknown journal (n.d.) · Unknown authors · PubMed 20932654

  ABSTRACT: Purpose To identify single nucleotide polymorphisms (SNPs) associated with erectile dysfunction (ED) among African American prostate cancer patients treated with external beam radiation therapy (EBRT). Methods and Materials A cohort of African American prostate cancer patients treated with EBRT was followed for development of ED using the five-item Sexual Health Inventory for Men (SHIM) questionnaire. Final analysis included 27 cases (post-treatment SHIM score ≤ 7) and 52 controls (post-treatment SHIM score ≥ 16). A genome-wide association study was performed using ∼909,000 SNPs genotyped on Affymetrix 6.0 arrays. Results We identified SNP rs2268363, located in the follicle stimulating hormone receptor (FSHR) gene, as significantly associated with ED after correcting for mu

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