LDLR c.2548-53G>A

Variant ID: 19-11241904-G-A

NM_000527.4(LDLR):c.2548-53G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Race and genetics versus 'race' in genetics: A systematic review of the use of African ancestry in genetic studies.

Evolution, Medicine, And Public Health
Duello, Theresa M TM; Rivedal, Shawna S; Wickland, Colton C; Weller, Annika A
Publication Date: 2021

Variant appearance in text: rs6413503
PubMed Link: 34815885
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: LDLR: 2548-53G>A; rs6413503
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs6413503
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

European Journal Of Epidemiology
Andreotti, Gabriella G; Menashe, Idan I; Chen, Jinbo J; Chang, Shih-Chen SC; Rashid, Asif A; Gao, Yu-Tang YT; Han, Tian-Quan TQ; Sakoda, Lori C LC; Chanock, Stephen S; Rosenberg, Philip S PS; Hsing, Ann W AW
Publication Date: 2009

Variant appearance in text: rs6413503
PubMed Link: 19888660
Variant Present in the following documents:
  • Main text
View BVdb publication page