Variant ID: 1-55518467-A-G

NM_174936.3(PCSK9):c.799+3A>G

This variant was identified in 4 publications




Publications:


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: rs2495477
PMID: 23620809
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: rs2495477
PMID: 23555291
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
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: rs2495477
PMID: 20699424
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: PCSK9: 799+3A>G; rs2495477
PMID: 17142622
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+3A>G - splice_region_variant,intron_variant - 5/11
ENST00000490692.1 n.1620+3A>G - splice_region_variant,intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+3A>G - splice_region_variant,intron_variant - 3/9
NM_174936.4 c.799+3A>G - splice_region_variant,intron_variant - 5/11
NR_110451.1 n.458+3A>G - splice_region_variant,intron_variant,non_coding_transcript_variant - 3/9