A1CF c.1168G>T ;(p.G390C)

Variant ID: 10-52573772-C-A

NM_014576.3(A1CF):c.1168G>T;(p.G390C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
Publication Date: 2022-06-16

Variant appearance in text: rs41274050
PubMed Link: 35710628
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3529.pdf
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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs41274050
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
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Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs41274050
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
View BVdb publication page



Genetics-driven discovery of novel regulators of lipid metabolism.

Current Opinion In Lipidology
Ha, Elizabeth E EE; Van Camp, Andrew G AG; Bauer, Robert C RC
Publication Date: 2019-06

Variant appearance in text: rs41274050
PubMed Link: 30985365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

American Journal Of Epidemiology
de Vries, Paul S PS; Brown, Michael R MR; Bentley, Amy R AR; Sung, Yun J YJ; Winkler, Thomas W TW; Ntalla, Ioanna I; Schwander, Karen K; Kraja, Aldi T AT; Guo, Xiuqing X; Franceschini, Nora N; Cheng, Ching-Yu CY; Sim, Xueling X; Vojinovic, Dina D; Huffman, Jennifer E JE; Musani, Solomon K SK; Li, Changwei C; Feitosa, Mary F MF; Richard, Melissa A MA; Noordam, Raymond R; Aschard, Hugues H; Bartz, Traci M TM; Bielak, Lawrence F LF; Deng, Xuan X; Dorajoo, Rajkumar R; Lohman, Kurt K KK; Manning, Alisa K AK; Rankinen, Tuomo T; Smith, Albert V AV; Tajuddin, Salman M SM; Evangelou, Evangelos E; Graff, Mariaelisa M; Alver, Maris M; Boissel, Mathilde M; Chai, Jin Fang JF; Chen, Xu X; Divers, Jasmin J; Gandin, Ilaria I; Gao, Chuan C; Goel, Anuj A; Hagemeijer, Yanick Y; Harris, Sarah E SE; Hartwig, Fernando P FP; He, Meian M; Horimoto, Andrea R V R ARVR; Hsu, Fang-Chi FC; Jackson, Anne U AU; Kasturiratne, Anuradhani A; Komulainen, Pirjo P; Kühnel, Brigitte B; Laguzzi, Federica F; Lee, Joseph H JH; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Matoba, Nana N; Nolte, Ilja M IM; Pietzner, Maik M; Riaz, Muhammad M; Said, M Abdullah MA; Scott, Robert A RA; Sofer, Tamar T; Stančáková, Alena A; Takeuchi, Fumihiko F; Tayo, Bamidele O BO; van der Most, Peter J PJ; Varga, Tibor V TV; Wang, Yajuan Y; Ware, Erin B EB; Wen, Wanqing W; Yanek, Lisa R LR; Zhang, Weihua W; Zhao, Jing Hua JH; Afaq, Saima S; Amin, Najaf N; Amini, Marzyeh M; Arking, Dan E DE; Aung, Tin T; Ballantyne, Christie C; Boerwinkle, Eric E; Broeckel, Ulrich U; Campbell, Archie A; Canouil, Mickaël M; Charumathi, Sabanayagam S; Chen, Yii-Der Ida YI; Connell, John M JM; de Faire, Ulf U; de Las Fuentes, Lisa L; de Mutsert, Renée R; de Silva, H Janaka HJ; Ding, Jingzhong J; Dominiczak, Anna F AF; Duan, Qing Q; Eaton, Charles B CB; Eppinga, Ruben N RN; Faul, Jessica D JD; Fisher, Virginia V; Forrester, Terrence T; Franco, Oscar H OH; Friedlander, Yechiel Y; Ghanbari, Mohsen M; Giulianini, Franco F; Grabe, Hans J HJ; Grove, Megan L ML; Gu, C Charles CC; Harris, Tamara B TB; Heikkinen, Sami S; Heng, Chew-Kiat CK; Hirata, Makoto M; Hixson, James E JE; Howard, Barbara V BV; Ikram, M Arfan MA; , ; Jacobs, David R DR; Johnson, Craig C; Jonas, Jost Bruno JB; Kammerer, Candace M CM; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kilpeläinen, Tuomas O TO; Koh, Woon-Puay WP; Koistinen, Heikki A HA; Kolcic, Ivana I; Kooperberg, Charles C; Krieger, Jose E JE; Kritchevsky, Steve B SB; Kubo, Michiaki M; Kuusisto, Johanna J; Lakka, Timo A TA; Langefeld, Carl D CD; Langenberg, Claudia C; Launer, Lenore J LJ; Lehne, Benjamin B; Lemaitre, Rozenn N RN; Li, Yize Y; Liang, Jingjing J; Liu, Jianjun J; Liu, Kiang K; Loh, Marie M; Louie, Tin T; Mägi, Reedik R; Manichaikul, Ani W AW; McKenzie, Colin A CA; Meitinger, Thomas T; Metspalu, Andres A; Milaneschi, Yuri Y; Milani, Lili L; Mohlke, Karen L KL; Mosley, Thomas H TH; Mukamal, Kenneth J KJ; Nalls, Mike A MA; Nauck, Matthias M; Nelson, Christopher P CP; Sotoodehnia, Nona N; O'Connell, Jeff R JR; Palmer, Nicholette D ND; Pazoki, Raha R; Pedersen, Nancy L NL; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Poulter, Neil N; Raffel, Leslie J LJ; Raitakari, Olli T OT; Reiner, Alex P AP; Rice, Treva K TK; Rich, Stephen S SS; Robino, Antonietta A; Robinson, Jennifer G JG; Rose, Lynda M LM; Rudan, Igor I; Schmidt, Carsten O CO; Schreiner, Pamela J PJ; Scott, William R WR; Sever, Peter P; Shi, Yuan Y; Sidney, Stephen S; Sims, Mario M; Smith, Blair H BH; Smith, Jennifer A JA; Snieder, Harold H; Starr, John M JM; Strauch, Konstantin K; Tan, Nicholas N; Taylor, Kent D KD; Teo, Yik Ying YY; Tham, Yih Chung YC; Uitterlinden, André G AG; van Heemst, Diana D; Vuckovic, Dragana D; Waldenberger, Melanie M; Wang, Lihua L; Wang, Yujie Y; Wang, Zhe Z; Wei, Wen Bin WB; Williams, Christine C; Wilson, Gregory G; Wojczynski, Mary K MK; Yao, Jie J; Yu, Bing B; Yu, Caizheng C; Yuan, Jian-Min JM; Zhao, Wei W; Zonderman, Alan B AB; Becker, Diane M DM; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Deary, Ian J IJ; Esko, Tõnu T; Farrall, Martin M; Franks, Paul W PW; Freedman, Barry I BI; Froguel, Philippe P; Gasparini, Paolo P; Gieger, Christian C; Horta, Bernardo L BL; Kamatani, Yoichiro Y; Kato, Norihiro N; Kooner, Jaspal S JS; Laakso, Markku M; Leander, Karin K; Lehtimäki, Terho T; , ; Magnusson, Patrik K E PKE; Penninx, Brenda B; Pereira, Alexandre C AC; Rauramaa, Rainer R; Samani, Nilesh J NJ; Scott, James J; Shu, Xiao-Ou XO; van der Harst, Pim P; Wagenknecht, Lynne E LE; Wang, Ya Xing YX; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wickremasinghe, Ananda R AR; Zheng, Wei W; Elliott, Paul P; North, Kari E KE; Bouchard, Claude C; Evans, Michele K MK; Gudnason, Vilmundur V; Liu, Ching-Ti CT; Liu, Yongmei Y; Psaty, Bruce M BM; Ridker, Paul M PM; van Dam, Rob M RM; Kardia, Sharon L R SLR; Zhu, Xiaofeng X; Rotimi, Charles N CN; Mook-Kanamori, Dennis O DO; Fornage, Myriam M; Kelly, Tanika N TN; Fox, Ervin R ER; Hayward, Caroline C; van Duijn, Cornelia M CM; Tai, E Shyong ES; Wong, Tien Yin TY; Liu, Jingmin J; Rotter, Jerome I JI; Gauderman, W James WJ; Province, Michael A MA; Munroe, Patricia B PB; Rice, Kenneth K; Chasman, Daniel I DI; Cupples, L Adrienne LA; Rao, Dabeeru C DC; Morrison, Alanna C AC
Publication Date: 2019-06-01

Variant appearance in text: rs41274050
PubMed Link: 30698716
Variant Present in the following documents:
  • Main text
View BVdb publication page