APOB c.383+171A>C

Variant ID: 2-21263639-T-G

NM_000384.2(APOB):c.383+171A>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Influence of multiple apolipoprotein A-I and B genetic variations on insulin resistance and metabolic syndrome in obstructive sleep apnea.

Nutrition & Metabolism
Li, Xinyi X; Fu, Zhihui Z; Xu, Huajun H; Zou, Jianyin J; Zhu, Huaming H; Li, Zhiqiang Z; Su, Kaiming K; Huai, De ; Yi, Hongliang H; Guan, Jian J; Yin, Shankai S
Publication Date: 2020

Variant appearance in text: rs531819
PubMed Link: 33005209
Variant Present in the following documents:
  • Main text
  • 12986_2020_Article_501.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: APOB: 383+171A>C
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs531819
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_78.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: APOB: 383+171A>C; rs531819
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs531819
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
Taylor, Kira C KC; Carty, Cara L CL; Dumitrescu, Logan L; Bůžková, Petra P; Cole, Shelley A SA; Hindorff, Lucia L; Schumacher, Fred R FR; Wilkens, Lynne R LR; Shohet, Ralph V RV; Quibrera, P Miguel PM; Johnson, Karen C KC; Henderson, Brian E BE; Haessler, Jeff J; Franceschini, Nora N; Eaton, Charles B CB; Duggan, David J DJ; Cochran, Barbara B; Cheng, Iona I; Carlson, Chris S CS; Brown-Gentry, Kristin K; Anderson, Garnet G; Ambite, Jose Luis JL; Haiman, Christopher C; Le Marchand, Loïc L; Kooperberg, Charles C; Crawford, Dana C DC; Buyske, Steven S; North, Kari E KE; Fornage, Myriam M; ,
Publication Date: 2013-05-01

Variant appearance in text: rs531819
PubMed Link: 23634756
Variant Present in the following documents:
  • Main text
  • 1471-2156-14-33.pdf
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
Asselbergs, Folkert W FW; Guo, Yiran Y; van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Tragante, Vinicius V; Lanktree, Matthew B MB; Lange, Leslie A LA; Almoguera, Berta B; Appelman, Yolande E YE; Barnard, John J; Baumert, Jens J; Beitelshees, Amber L AL; Bhangale, Tushar R TR; Chen, Yii-Der Ida YD; Gaunt, Tom R TR; Gong, Yan Y; Hopewell, Jemma C JC; Johnson, Toby T; Kleber, Marcus E ME; Langaee, Taimour Y TY; Li, Mingyao M; Li, Yun R YR; Liu, Kiang K; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Middelberg, Rita P S RP; Musunuru, Kiran K; Nelson, Christopher P CP; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Pankow, James S JS; Pankratz, Nathan N; Rafelt, Suzanne S; Rajagopalan, Ramakrishnan R; Romaine, Simon P R SP; Schork, Nicholas J NJ; Shaffer, Jonathan J; Shen, Haiqing H; Smith, Erin N EN; Tischfield, Sam E SE; van der Most, Peter J PJ; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Volcik, Kelly A KA; Zhang, Li L; Bailey, Kent R KR; Bailey, Kristian M KM; Bauer, Florianne F; Boer, Jolanda M A JM; Braund, Peter S PS; Burt, Amber A; Burton, Paul R PR; Buxbaum, Sarah G SG; Chen, Wei W; Cooper-Dehoff, Rhonda M RM; Cupples, L Adrienne LA; deJong, Jonas S JS; Delles, Christian C; Duggan, David D; Fornage, Myriam M; Furlong, Clement E CE; Glazer, Nicole N; Gums, John G JG; Hastie, Claire C; Holmes, Michael V MV; Illig, Thomas T; Kirkland, Susan A SA; Kivimaki, Mika M; Klein, Ronald R; Klein, Barbara E BE; Kooperberg, Charles C; Kottke-Marchant, Kandice K; Kumari, Meena M; LaCroix, Andrea Z AZ; Mallela, Laya L; Murugesan, Gurunathan G; Ordovas, Jose J; Ouwehand, Willem H WH; Post, Wendy S WS; Saxena, Richa R; Scharnagl, Hubert H; Schreiner, Pamela J PJ; Shah, Tina T; Shields, Denis C DC; Shimbo, Daichi D; Srinivasan, Sathanur R SR; Stolk, Ronald P RP; Swerdlow, Daniel I DI; Taylor, Herman A HA; Topol, Eric J EJ; Toskala, Elina E; van Pelt, Joost L JL; van Setten, Jessica J; Yusuf, Salim S; Whittaker, John C JC; Zwinderman, A H AH; , ; Anand, Sonia S SS; Balmforth, Anthony J AJ; Berenson, Gerald S GS; Bezzina, Connie R CR; Boehm, Bernhard O BO; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Clarke, Robert R; Connell, John M JM; Cruickshanks, Karen J KJ; Davidson, Karina W KW; Day, Ian N M IN; de Bakker, Paul I W PI; Doevendans, Pieter A PA; Dominiczak, Anna F AF; Hall, Alistair S AS; Hartman, Catharina A CA; Hengstenberg, Christian C; Hillege, Hans L HL; Hofker, Marten H MH; Humphries, Steve E SE; Jarvik, Gail P GP; Johnson, Julie A JA; Kaess, Bernhard M BM; Kathiresan, Sekar S; Koenig, Wolfgang W; Lawlor, Debbie A DA; März, Winfried W; Melander, Olle O; Mitchell, Braxton D BD; Montgomery, Grant W GW; Munroe, Patricia B PB; Murray, Sarah S SS; Newhouse, Stephen J SJ; Onland-Moret, N Charlotte NC; Poulter, Neil N; Psaty, Bruce B; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Schunkert, Heribert H; Sever, Peter P; Shuldiner, Alan R AR; Silverstein, Roy L RL; Stanton, Alice A; Thorand, Barbara B; Trip, Mieke D MD; Tsai, Michael Y MY; van der Harst, Pim P; van der Schoot, Ellen E; van der Schouw, Yvonne T YT; Verschuren, W M Monique WM; Watkins, Hugh H; Wilde, Arthur A M AA; Wolffenbuttel, Bruce H R BH; Whitfield, John B JB; Hovingh, G Kees GK; Ballantyne, Christie M CM; Wijmenga, Cisca C; Reilly, Muredach P MP; Martin, Nicholas G NG; Wilson, James G JG; Rader, Daniel J DJ; Samani, Nilesh J NJ; Reiner, Alex P AP; Hegele, Robert A RA; Kastelein, John J P JJ; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Hakonarson, Hakon H; Elbers, Clara C CC; Keating, Brendan J BJ; Drenos, Fotios F
Publication Date: 2012-11-02

Variant appearance in text: rs531819
PubMed Link: 23063622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

Human Genetics
Hong, Mun-Gwan MG; Pawitan, Yudi Y; Magnusson, Patrik K E PK; Prince, Jonathan A JA
Publication Date: 2009-08

Variant appearance in text: rs531819
PubMed Link: 19408013
Variant Present in the following documents:
  • Main text
View BVdb publication page