PCSK9 c.657+76C>A

Variant ID: 1-55518160-C-A

NM_174936.3(PCSK9):c.657+76C>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: rs11806638
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
View BVdb publication page



Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study.

Frontiers In Genetics
Agongo, Godfred G; Amenga-Etego, Lucas L; Nonterah, Engelbert A EA; Debpuur, Cornelius C; Choudhury, Ananyo A; Bentley, Amy R AR; Oduro, Abraham R AR; Rotimi, Charles N CN; Crowther, Nigel J NJ; Ramsay, Michèle M; , ; H Africa,
Publication Date: 2020

Variant appearance in text: rs11806638
PubMed Link: 33193594
Variant Present in the following documents:
  • Main text
  • fgene-11-456661.pdf
View BVdb publication page



Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs11806638
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: PCSK9: 657+76C>A
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: PCSK9: 657+76C>A; rs11806638
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs11806638
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
Elbers, Clara C CC; Guo, Yiran Y; Tragante, Vinicius V; van Iperen, Erik P A EP; Lanktree, Matthew B MB; Castillo, Berta Almoguera BA; Chen, Fang F; Yanek, Lisa R LR; Wojczynski, Mary K MK; Li, Yun R YR; Ferwerda, Bart B; Ballantyne, Christie M CM; Buxbaum, Sarah G SG; Chen, Yii-Der Ida YD; Chen, Wei-Min WM; Cupples, L Adrienne LA; Cushman, Mary M; Duan, Yanan Y; Duggan, David D; Evans, Michele K MK; Fernandes, Jyotika K JK; Fornage, Myriam M; Garcia, Melissa M; Garvey, W Timothy WT; Glazer, Nicole N; Gomez, Felicia F; Harris, Tamara B TB; Halder, Indrani I; Howard, Virginia J VJ; Keller, Margaux F MF; Kamboh, M Ilyas MI; Kooperberg, Charles C; Kritchevsky, Stephen B SB; LaCroix, Andrea A; Liu, Kiang K; Liu, Yongmei Y; Musunuru, Kiran K; Newman, Anne B AB; Onland-Moret, N Charlotte NC; Ordovas, Jose J; Peter, Inga I; Post, Wendy W; Redline, Susan S; Reis, Steven E SE; Saxena, Richa R; Schreiner, Pamela J PJ; Volcik, Kelly A KA; Wang, Xingbin X; Yusuf, Salim S; Zonderland, Alan B AB; Anand, Sonia S SS; Becker, Diane M DM; Psaty, Bruce B; Rader, Daniel J DJ; Reiner, Alex P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Sale, Michèle M MM; Tsai, Michael Y MY; Borecki, Ingrid B IB; Hegele, Robert A RA; Kathiresan, Sekar S; Nalls, Michael A MA; Taylor, Herman A HA; Hakonarson, Hakon H; Sivapalaratnam, Suthesh S; Asselbergs, Folkert W FW; Drenos, Fotios F; Wilson, James G JG; Keating, Brendan J BJ
Publication Date: 2012

Variant appearance in text: rs11806638
PubMed Link: 23236364
Variant Present in the following documents:
  • Main text
  • pone.0050198.pdf
View BVdb publication page



Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

Variant appearance in text: rs11806638
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.pdf
View BVdb publication page