Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y188Y
Back to variants list

LDLR

NM_000527.5:p.Y188Y

Associated Papers

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

Common variation in genes involved in HDL metabolism influences coronary heart disease risk at the population level.

Brousseau ME

Reviews in Endocrine & Metabolic Disorders, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."