LDLR c.68-4859C>T

Variant ID: 19-11206040-C-T

NM_000527.4(LDLR):c.68-4859C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Cross-species regulatory sequence activity prediction.

Plos Computational Biology
Kelley, David R DR
Publication Date: 2020-07

Variant appearance in text: rs17248748
PubMed Link: 32687525
Variant Present in the following documents:
  • Main text
  • pcbi.1008050.pdf
View BVdb publication page



Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.

International Journal Of Endocrinology And Metabolism
Daneshpour, Maryam S MS; Hedayati, Mehdi M; Sedaghati-Khayat, Bahareh B; Guity, Kamran K; Zarkesh, Maryam M; Akbarzadeh, Mahdi M; Javanrooh, Niloofar N; Zadeh-Vakili, Azita A; Azizi, Fereidoun F
Publication Date: 2018-10

Variant appearance in text: rs17248748
PubMed Link: 30584432
Variant Present in the following documents:
  • Main text
  • ijem-16-suppl04-84744.pdf
View BVdb publication page



Rare non-coding variants are associated with plasma lipid traits in a founder population.

Scientific Reports
Igartua, Catherine C; Mozaffari, Sahar V SV; Nicolae, Dan L DL; Ober, Carole C
Publication Date: 2017-11-27

Variant appearance in text: rs17248748
PubMed Link: 29180722
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16550.pdf
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
Gretarsdottir, Solveig S; Helgason, Hannes H; Helgadottir, Anna A; Sigurdsson, Asgeir A; Thorleifsson, Gudmar G; Magnusdottir, Audur A; Oddsson, Asmundur A; Steinthorsdottir, Valgerdur V; Rafnar, Thorunn T; de Graaf, Jacqueline J; Daneshpour, Maryam S MS; Hedayati, Mehdi M; Azizi, Fereidoun F; Grarup, Niels N; Jørgensen, Torben T; Vestergaard, Henrik H; Hansen, Torben T; Eyjolfsson, Gudmundur G; Sigurdardottir, Olof O; Olafsson, Isleifur I; Kiemeney, Lambertus A LA; Pedersen, Oluf O; Sulem, Patrick P; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Holm, Hilma H; Thorsteinsdottir, Unnur U; Stefansson, Kari K
Publication Date: 2015-09

Variant appearance in text: LDLR: 68-4859C>T; rs17248748
PubMed Link: 26327206
Variant Present in the following documents:
  • Main text
  • pgen.1005379.pdf
View BVdb publication page