Variant ID: 1-55518316-C-T

NM_174936.3(PCSK9):c.658-7C>T

This variant was identified in 6 publications




Publications:


Methods for meta-analysis of multiple traits using GWAS summary statistics.

Genetic Epidemiology
D Ray, M Boehnke
Publication Date: 2018-03

Variant appearance in text: rs2483205
PMID: 29226385
View BVdb publication page



A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design.

Plos One
X Zhang, X Yang, Z Yuan, Y Liu, F Li, B Peng, D Zhu, J Zhao, F Xue
Publication Date: 2013

Variant appearance in text: rs2483205
PMID: 23620809
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PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
Publication Date: 2013-02

Variant appearance in text: rs2483205
PMID: 23300213
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs2483205
PMID: 18300938
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: rs2483205
PMID: 17142622
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.658-7C>T - splice_region_variant,intron_variant - 4/11
ENST00000452118.2 c.*302-7C>T - splice_region_variant,intron_variant - 5/5
ENST00000490692.1 n.1479-7C>T - splice_region_variant,intron_variant,non_coding_transcript_variant - 1/7
ENST00000543384.1 c.58-7C>T - splice_region_variant,intron_variant - 2/9
NM_174936.4 c.658-7C>T - splice_region_variant,intron_variant - 4/11
NR_110451.1 n.317-7C>T - splice_region_variant,intron_variant,non_coding_transcript_variant - 2/9