GALNT2 c.127-8976A>C

Variant ID: 1-230304988-A-C

NM_004481.3(GALNT2):c.127-8976A>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs10489615
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs10489615
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs10489615
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
View BVdb publication page



Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
Howard, Alicia D AD; Wang, Xiaochun X; Prasad, Megana M; Sahu, Avinash Das AD; Aniba, Radhouane R; Miller, Michael M; Hannenhalli, Sridhar S; Chang, Yen-Pei Christy YC
Publication Date: 2019

Variant appearance in text: rs10489615
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
  • pone.0215911.pdf
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Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

Plos One
de Vries, Paul S PS; Sabater-Lleal, Maria M; Chasman, Daniel I DI; Trompet, Stella S; Ahluwalia, Tarunveer S TS; Teumer, Alexander A; Kleber, Marcus E ME; Chen, Ming-Huei MH; Wang, Jie Jin JJ; Attia, John R JR; Marioni, Riccardo E RE; Steri, Maristella M; Weng, Lu-Chen LC; Pool, Rene R; Grossmann, Vera V; Brody, Jennifer A JA; Venturini, Cristina C; Tanaka, Toshiko T; Rose, Lynda M LM; Oldmeadow, Christopher C; Mazur, Johanna J; Basu, Saonli S; Frånberg, Mattias M; Yang, Qiong Q; Ligthart, Symen S; Hottenga, Jouke J JJ; Rumley, Ann A; Mulas, Antonella A; de Craen, Anton J M AJ; Grotevendt, Anne A; Taylor, Kent D KD; Delgado, Graciela E GE; Kifley, Annette A; Lopez, Lorna M LM; Berentzen, Tina L TL; Mangino, Massimo M; Bandinelli, Stefania S; Morrison, Alanna C AC; Hamsten, Anders A; Tofler, Geoffrey G; de Maat, Moniek P M MP; Draisma, Harmen H M HH; Lowe, Gordon D GD; Zoledziewska, Magdalena M; Sattar, Naveed N; Lackner, Karl J KJ; Völker, Uwe U; McKnight, Barbara B; Huang, Jie J; Holliday, Elizabeth G EG; McEvoy, Mark A MA; Starr, John M JM; Hysi, Pirro G PG; Hernandez, Dena G DG; Guan, Weihua W; Rivadeneira, Fernando F; McArdle, Wendy L WL; Slagboom, P Eline PE; Zeller, Tanja T; Psaty, Bruce M BM; Uitterlinden, André G AG; de Geus, Eco J C EJ; Stott, David J DJ; Binder, Harald H; Hofman, Albert A; Franco, Oscar H OH; Rotter, Jerome I JI; Ferrucci, Luigi L; Spector, Tim D TD; Deary, Ian J IJ; März, Winfried W; Greinacher, Andreas A; Wild, Philipp S PS; Cucca, Francesco F; Boomsma, Dorret I DI; Watkins, Hugh H; Tang, Weihong W; Ridker, Paul M PM; Jukema, Jan W JW; Scott, Rodney J RJ; Mitchell, Paul P; Hansen, Torben T; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Strachan, David P DP; Dehghan, Abbas A
Publication Date: 2017

Variant appearance in text: rs10489615
PubMed Link: 28107422
Variant Present in the following documents:
  • Main text
  • pone.0167742.pdf
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Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels.

Lipids In Health And Disease
Cavalli, Marco M; Pan, Gang G; Nord, Helena H; Wadelius, Claes C
Publication Date: 2016-01-27

Variant appearance in text: rs10489615
PubMed Link: 26817450
Variant Present in the following documents:
  • Main text
  • 12944_2016_Article_183.pdf
View BVdb publication page



Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects.

American Journal Of Epidemiology
Burgess, Stephen S; Thompson, Simon G SG
Publication Date: 2015-02-15

Variant appearance in text: rs10489615
PubMed Link: 25632051
Variant Present in the following documents:
  • supp_kwu283_kwu283supp.pdf
View BVdb publication page



Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Waterworth, Dawn M DM; Ricketts, Sally L SL; Song, Kijoung K; Chen, Li L; Zhao, Jing Hua JH; Ripatti, Samuli S; Aulchenko, Yurii S YS; Zhang, Weihua W; Yuan, Xin X; Lim, Noha N; Luan, Jian'an J; Ashford, Sofie S; Wheeler, Eleanor E; Young, Elizabeth H EH; Hadley, David D; Thompson, John R JR; Braund, Peter S PS; Johnson, Toby T; Struchalin, Maksim M; Surakka, Ida I; Luben, Robert R; Khaw, Kay-Tee KT; Rodwell, Sheila A SA; Loos, Ruth J F RJ; Boekholdt, S Matthijs SM; Inouye, Michael M; Deloukas, Panagiotis P; Elliott, Paul P; Schlessinger, David D; Sanna, Serena S; Scuteri, Angelo A; Jackson, Anne A; Mohlke, Karen L KL; Tuomilehto, Jaako J; Roberts, Robert R; Stewart, Alexandre A; Kesäniemi, Y Antero YA; Mahley, Robert W RW; Grundy, Scott M SM; , ; McArdle, Wendy W; Cardon, Lon L; Waeber, Gérard G; Vollenweider, Peter P; Chambers, John C JC; Boehnke, Michael M; Abecasis, Gonçalo R GR; Salomaa, Veikko V; Järvelin, Marjo-Riitta MR; Ruokonen, Aimo A; Barroso, Inês I; Epstein, Stephen E SE; Hakonarson, Hakon H HH; Rader, Daniel J DJ; Reilly, Muredach P MP; Witteman, Jacqueline C M JC; Hall, Alistair S AS; Samani, Nilesh J NJ; Strachan, David P DP; Barter, Philip P; van Duijn, Cornelia M CM; Kooner, Jaspal S JS; Peltonen, Leena L; Wareham, Nicholas J NJ; McPherson, Ruth R; Mooser, Vincent V; Sandhu, Manjinder S MS
Publication Date: 2010-11

Variant appearance in text: rs10489615
PubMed Link: 20864672
Variant Present in the following documents:
  • Main text
View BVdb publication page