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Variant ID: 1-55527479-A-G
NM_174936.3(
PCSK9
):c.1863+250A>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.
Journal Of The American Heart Association
Ferreira, João Pedro JP; Xhaard, Constance C; Lamiral, Zohra Z; Borges-Canha, Marta M; Neves, João Sérgio JS; Dandine-Roulland, Claire C; LeFloch, Edith E; Deleuze, Jean-François JF; Bacq-Daian, Delphine D; Bozec, Erwan E; Girerd, Nicolas N; Boivin, Jean-Marc JM; Zannad, Faiez F; Rossignol, Patrick P
Publication Date: 2020-04-07
Variant appearance in text: rs631220
PubMed Link:
32208829
Variant Present in the following documents:
Main text
View BVdb publication page
Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.
Journal Of Lipid Research
Guella, Ilaria I; Asselta, Rosanna R; Ardissino, Diego D; Merlini, Pier Angelica PA; Peyvandi, Flora F; Kathiresan, Sekar S; Mannucci, Pier Mannuccio PM; Tubaro, Marco M; Duga, Stefano S
Publication Date: 2010-11
Variant appearance in text: rs631220
PubMed Link:
20699424
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular population genetics of PCSK9: a signature of recent positive selection.
Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03
Variant appearance in text: rs631220
PubMed Link:
18300938
Variant Present in the following documents:
Main text
View BVdb publication page