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LDLR c.940+1091T>C
Variant ID: 19-11219281-T-C
NM_000527.4(
LDLR
):c.940+1091T>C
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: rs180760728
PubMed Link:
26327206
Variant Present in the following documents:
Main text
pgen.1005379.pdf
View BVdb publication page