rs115230894 - CASR
Magnitude 2.2 · 1 study on file
Reported associations
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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses - Unknown journal (n.d.) · Unknown authors · PubMed 34226706
ABSTRACT: Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total N~500K) to impute exome-wide variants with accuracy R2>0.5 down to minor allele frequency (MAF) ~0.00005. Association and fine-mapping analyses of 54 quantitative traits identified 1,189 significant associations (P<5 x 10−8) involving 675 distinct rare protein-altering variants (MAF<0.01) that passed stringent filters for likely causality. Across all traits, 49% of associations (578/1,189) occurred in genes with two or more hits; follow-up analyses of these genes identified allelic series containing up
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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serum phosphate levels Moderate
CASR variants strongly influence serum phosphate homeostasis and regulation
Check serum phosphate at routine annual health screening
- GWAS_CATALOG:34226706
Discuss with your doctor
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CASR variant classification uncertainty from ClinVar Low
CASR variants have been associated with multiple conflicting pathogenicity classifications in ClinVar, including hypocalcemia and hypercalcemia phenotypes
Review ClinVar classifications with physician to clarify clinical relevance for your specific genotype
- ClinVar:237758