ABO c.28+5153G>A

Variant ID: 9-136145425-C-T

NM_020469.2(ABO):c.28+5153G>A

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Cellular and molecular features of COVID-19 associated ARDS: therapeutic relevance.

Journal Of Inflammation (London, England)
Scaramuzzo, Gaetano G; Nucera, Francesco F; Asmundo, Alessio A; Messina, Roberto R; Mari, Matilde M; Montanaro, Federica F; Johansen, Matt D MD; Monaco, Francesco F; Fadda, Guido G; Tuccari, Giovanni G; Hansbro, Nicole G NG; Hansbro, Philip M PM; Hansel, Trevor T TT; Adcock, Ian M IM; David, Antonio A; Kirkham, Paul P; Caramori, Gaetano G; Volta, Carlo Alberto CA; Spadaro, Savino S
Publication Date: 2023-03-20

Variant appearance in text: rs9411378
PubMed Link: 36941580
Variant Present in the following documents:
  • Main text
  • 12950_2023_Article_333.pdf
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Covid-19: virology, variants, and vaccines.

Bmj Medicine
Young, Megan M; Crook, Harry H; Scott, Janet J; Edison, Paul P
Publication Date: 2022

Variant appearance in text: rs9411378
PubMed Link: 36936563
Variant Present in the following documents:
  • bmjmed-2021-000040.draft_revisions.pdf
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Genome-wide association studies of COVID-19: Connecting the dots.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Ferreira, Leonardo C LC; Gomes, Carlos E M CEM; Rodrigues-Neto, João F JF; Jeronimo, Selma M B SMB
Publication Date: 2022-10-21

Variant appearance in text: rs9411378
PubMed Link: 36280088
Variant Present in the following documents:
  • Main text
  • main.pdf
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Human genetic basis of severe or critical illness in COVID-19.

Frontiers In Cellular And Infection Microbiology
Ji, Xiao-Shan XS; Chen, Bin B; Ze, Bi B; Zhou, Wen-Hao WH
Publication Date: 2022

Variant appearance in text: rs9411378
PubMed Link: 36204639
Variant Present in the following documents:
  • Main text
  • fcimb-12-963239.pdf
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ABO blood group and link to COVID-19: A comprehensive review of the reported associations and their possible underlying mechanisms.

Microbial Pathogenesis
Pereira, Eric E; Felipe, Stela S; de Freitas, Raquel R; Araújo, Valdevane V; Soares, Paula P; Ribeiro, Jannison J; Henrique Dos Santos, Luiz L; Alves, Juliana Osório JO; Canabrava, Natália N; van Tilburg, Mauricio M; Guedes, Maria Izabel MI; Ceccatto, Vânia V
Publication Date: 2022-08

Variant appearance in text: rs9411378
PubMed Link: 35764188
Variant Present in the following documents:
  • Main text
  • main.pdf
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Individual genetic variability mainly of Proinflammatory cytokines, cytokine receptors, and toll-like receptors dictates pathophysiology of COVID-19 disease.

Journal Of Medical Virology
Vakil, Mohammad Kazem MK; Mansoori, Yaser Y; Al-Awsi, Ghaidaa Raheem Lateef GRL; Hosseinipour, Ali A; Ahsant, Samaneh S; Ahmadi, Sedigheh S; Ekrahi, Mohammad M; Montaseri, Zahra Z; Pezeshki, Babak B; Mohaghegh, Poopak P; Sohrabpour, Mojtaba M; Bahmanyar, Maryam M; Daraei, Abdolreza A; Dadkhah Jouybari, Tahereh T; Tavassoli, Alireza A; Ghasemian, Abdolmajid A
Publication Date: 2022-09

Variant appearance in text: rs9411378
PubMed Link: 35538614
Variant Present in the following documents:
  • Main text
  • JMV-94-4088.pdf
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The Genomic Profile Associated with Risk of Severe Forms of COVID-19 in Amazonian Native American Populations.

Journal Of Personalized Medicine
Pastana, Lucas Favacho LF; Silva, Thays Amâncio TA; Gellen, Laura Patrícia Albarello LPA; Vieira, Giovana Miranda GM; de Assunção, Letícia Almeida LA; Leitão, Luciana Pereira Colares LPC; da Silva, Natasha Monte NM; Coelho, Rita de Cássia Calderaro RCC; de Alcântara, Angélica Leite AL; Vinagre, Lui Wallacy Morikawa Souza LWMS; Rodrigues, Juliana Carla Gomes JCG; Borges Leal, Diana Feio da Veiga DFDV; Fernandes, Marianne Rodrigues MR; de Souza, Sandro José SJ; Kroll, José Eduardo JE; Ribeiro-Dos-Santos, André Mauricio AM; Burbano, Rommel Mario Rodríguez RMR; Guerreiro, João Farias JF; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Campos ÂC; Dos Santos, Sidney Emanuel Batista SEB; Dos Santos, Ney Pereira Carneiro NPC
Publication Date: 2022-04-01

Variant appearance in text: rs9411378
PubMed Link: 35455670
Variant Present in the following documents:
  • Main text
  • jpm-12-00554.pdf
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Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.

Nature Genetics
Ebler, Jana J; Ebert, Peter P; Clarke, Wayne E WE; Rausch, Tobias T; Audano, Peter A PA; Houwaart, Torsten T; Mao, Yafei Y; Korbel, Jan O JO; Eichler, Evan E EE; Zody, Michael C MC; Dilthey, Alexander T AT; Marschall, Tobias T
Publication Date: 2022-04

Variant appearance in text: rs9411378
PubMed Link: 35410384
Variant Present in the following documents:
  • 41588_2022_Article_1043.pdf
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A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors.

Hgg Advances
Thibord, Florian F; Chan, Melissa V MV; Chen, Ming-Huei MH; Johnson, Andrew D AD
Publication Date: 2022-04-14

Variant appearance in text: rs9411378
PubMed Link: 35224516
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs9411378
PubMed Link: 35078996
Variant Present in the following documents:
  • 41467_2021_27850_MOESM1_ESM.pdf
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A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs9411378
PubMed Link: 35078996
Variant Present in the following documents:
  • 41467_2021_27850_MOESM1_ESM.pdf
View BVdb publication page



Host genetic factors determining COVID-19 susceptibility and severity.

Ebiomedicine
Velavan, Thirumalaisamy P TP; Pallerla, Srinivas Reddy SR; Rüter, Jule J; Augustin, Yolanda Y; Kremsner, Peter G PG; Krishna, Sanjeev S; Meyer, Christian G CG
Publication Date: 2021-10

Variant appearance in text: rs9411378
PubMed Link: 34655949
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genetics Insight for COVID-19 Susceptibility and Severity: A Review.

Frontiers In Immunology
Fricke-Galindo, Ingrid I; Falfán-Valencia, Ramcés R
Publication Date: 2021

Variant appearance in text: rs9411378
PubMed Link: 33868239
Variant Present in the following documents:
  • Main text
  • fimmu-12-622176.pdf
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Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure.

Nature Communications
Arvanitis, Marios M; Tampakakis, Emmanouil E; Zhang, Yanxiao Y; Wang, Wei W; Auton, Adam A; , ; Dutta, Diptavo D; Glavaris, Stephanie S; Keramati, Ali A; Chatterjee, Nilanjan N; Chi, Neil C NC; Ren, Bing B; Post, Wendy S WS; Battle, Alexis A
Publication Date: 2020-02-28

Variant appearance in text: rs9411378
PubMed Link: 32111823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.

Human Molecular Genetics
Nag, Abhishek A; Kurushima, Yuko Y; Bowyer, Ruth C E RCE; Wells, Philippa M PM; Weiss, Stefan S; Pietzner, Maik M; Kocher, Thomas T; Raffler, Johannes J; Völker, Uwe U; Mangino, Massimo M; Spector, Timothy D TD; Milburn, Michael V MV; Kastenmüller, Gabi G; Mohney, Robert P RP; Suhre, Karsten K; Menni, Cristina C; Steves, Claire J CJ
Publication Date: 2020-03-27

Variant appearance in text: rs9411378
PubMed Link: 31960908
Variant Present in the following documents:
  • Main text
  • ddz308.pdf
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Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.

Plos One
McLachlan, Stela S; Giambartolomei, Claudia C; White, Jon J; Charoen, Pimphen P; Wong, Andrew A; Finan, Chris C; Engmann, Jorgen J; Shah, Tina T; Hersch, Micha M; Podmore, Clara C; Cavadino, Alana A; Jefferis, Barbara J BJ; Dale, Caroline E CE; Hypponen, Elina E; Morris, Richard W RW; Casas, Juan P JP; Kumari, Meena M; Ben-Shlomo, Yoav Y; Gaunt, Tom R TR; Drenos, Fotios F; Langenberg, Claudia C; Kuh, Diana D; Kivimaki, Mika M; Rueedi, Rico R; Waeber, Gerard G; Hingorani, Aroon D AD; Price, Jacqueline F JF; Walker, Ann P AP; ,
Publication Date: 2016

Variant appearance in text: rs9411378
PubMed Link: 27280446
Variant Present in the following documents:
  • Main text
  • pone.0156914.pdf
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Nature Genetics
Kuchenbaecker, Karoline B KB; Ramus, Susan J SJ; Tyrer, Jonathan J; Lee, Andrew A; Shen, Howard C HC; Beesley, Jonathan J; Lawrenson, Kate K; McGuffog, Lesley L; Healey, Sue S; Lee, Janet M JM; Spindler, Tassja J TJ; Lin, Yvonne G YG; Pejovic, Tanja T; Bean, Yukie Y; Li, Qiyuan Q; Coetzee, Simon S; Hazelett, Dennis D; Miron, Alexander A; Southey, Melissa M; Terry, Mary Beth MB; Goldgar, David E DE; Buys, Saundra S SS; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elizabeth J EJ; Neuhausen, Susan L SL; Ding, Yuan Chun YC; Hansen, Thomas V O TV; Jønson, Lars L; Gerdes, Anne-Marie AM; Ejlertsen, Bent B; Barrowdale, Daniel D; Dennis, Joe J; Benitez, Javier J; Osorio, Ana A; Garcia, Maria Jose MJ; Komenaka, Ian I; Weitzel, Jeffrey N JN; Ganschow, Pamela P; Peterlongo, Paolo P; Bernard, Loris L; Viel, Alessandra A; Bonanni, Bernardo B; Peissel, Bernard B; Manoukian, Siranoush S; Radice, Paolo P; Papi, Laura L; Ottini, Laura L; Fostira, Florentia F; Konstantopoulou, Irene I; Garber, Judy J; Frost, Debra D; Perkins, Jo J; Platte, Radka R; Ellis, Steve S; , ; Godwin, Andrew K AK; Schmutzler, Rita Katharina RK; Meindl, Alfons A; Engel, Christoph C; Sutter, Christian C; Sinilnikova, Olga M OM; , ; Damiola, Francesca F; Mazoyer, Sylvie S; Stoppa-Lyonnet, Dominique D; Claes, Kathleen K; De Leeneer, Kim K; Kirk, Judy J; Rodriguez, Gustavo C GC; Piedmonte, Marion M; O'Malley, David M DM; de la Hoya, Miguel M; Caldes, Trinidad T; Aittomäki, Kristiina K; Nevanlinna, Heli H; Collée, J Margriet JM; Rookus, Matti A MA; Oosterwijk, Jan C JC; , ; Tihomirova, Laima L; Tung, Nadine N; Hamann, Ute U; Isaccs, Claudine C; Tischkowitz, Marc M; Imyanitov, Evgeny N EN; Caligo, Maria A MA; Campbell, Ian G IG; Hogervorst, Frans B L FB; , ; Olah, Edith E; Diez, Orland O; Blanco, Ignacio I; Brunet, Joan J; Lazaro, Conxi C; Pujana, Miquel Angel MA; Jakubowska, Anna A; Gronwald, Jacek J; Lubinski, Jan J; Sukiennicki, Grzegorz G; Barkardottir, Rosa B RB; Plante, Marie M; Simard, Jacques J; Soucy, Penny P; Montagna, Marco M; Tognazzo, Silvia S; Teixeira, Manuel R MR; , ; Pankratz, Vernon S VS; Wang, Xianshu X; Lindor, Noralane N; Szabo, Csilla I CI; Kauff, Noah N; Vijai, Joseph J; Aghajanian, Carol A CA; Pfeiler, Georg G; Berger, Andreas A; Singer, Christian F CF; Tea, Muy-Kheng MK; Phelan, Catherine M CM; Greene, Mark H MH; Mai, Phuong L PL; Rennert, Gad G; Mulligan, Anna Marie AM; Tchatchou, Sandrine S; Andrulis, Irene L IL; Glendon, Gord G; Toland, Amanda Ewart AE; Jensen, Uffe Birk UB; Kruse, Torben A TA; Thomassen, Mads M; Bojesen, Anders A; Zidan, Jamal J; Friedman, Eitan E; Laitman, Yael Y; Soller, Maria M; Liljegren, Annelie A; Arver, Brita B; Einbeigi, Zakaria Z; Stenmark-Askmalm, Marie M; Olopade, Olufunmilayo I OI; Nussbaum, Robert L RL; Rebbeck, Timothy R TR; Nathanson, Katherine L KL; Domchek, Susan M SM; Lu, Karen H KH; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; , ; , ; Hein, Alexander A; Ekici, Arif B AB; Beckmann, Matthias W MW; Fasching, Peter A PA; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambrechts, Sandrina S; Dicks, Ed E; Doherty, Jennifer A JA; Wicklund, Kristine G KG; Rossing, Mary Anne MA; Rudolph, Anja A; Chang-Claude, Jenny J; Wang-Gohrke, Shan S; Eilber, Ursula U; Moysich, Kirsten B KB; Odunsi, Kunle K; Sucheston, Lara L; Lele, Shashi S; Wilkens, Lynne R LR; Goodman, Marc T MT; Thompson, Pamela J PJ; Shvetsov, Yurii B YB; Runnebaum, Ingo B IB; Dürst, Matthias M; Hillemanns, Peter P; Dörk, Thilo T; Antonenkova, Natalia N; Bogdanova, Natalia N; Leminen, Arto A; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Kelley, Joseph L JL; Edwards, Robert P RP; Ness, Roberta B RB; du Bois, Andreas A; Heitz, Florian F; Schwaab, Ira I; Harter, Philipp P; Matsuo, Keitaro K; Hosono, Satoyo S; Orsulic, Sandra S; Jensen, Allan A; Kjaer, Susanne Kruger SK; Hogdall, Estrid E; Hasmad, Hanis Nazihah HN; Azmi, Mat Adenan Noor MA; Teo, Soo-Hwang SH; Woo, Yin-Ling YL; Fridley, Brooke L BL; Goode, Ellen L EL; Cunningham, Julie M JM; Vierkant, Robert A RA; Bruinsma, Fiona F; Giles, Graham G GG; Liang, Dong D; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Schildkraut, Joellen M JM; Concannon, Patrick P; Weber, Rachel Palmieri RP; Cramer, Daniel W DW; Terry, Kathryn L KL; Poole, Elizabeth M EM; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Krakstad, Camilla C; Salvesen, Helga B HB; Tangen, Ingvild L IL; Bjorge, Line L; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Kellar, Melissa M; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Cybulski, Cezary C; Yang, Hannah H; Lissowska, Jolanta J; Brinton, Louise A LA; Wentzensen, Nicolas N; Hogdall, Claus C; Lundvall, Lene L; Nedergaard, Lotte L; Baker, Helen H; Song, Honglin H; Eccles, Diana D; McNeish, Ian I; Paul, James J; Carty, Karen K; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Ji, Bu-Tian BT; Zheng, Wei W; Shu, Xiao-Ou XO; Gao, Yu-Tang YT; Rosen, Barry B; Risch, Harvey A HA; McLaughlin, John R JR; Narod, Steven A SA; Monteiro, Alvaro N AN; Chen, Ann A; Lin, Hui-Yi HY; Permuth-Wey, Jenny J; Sellers, Thomas A TA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Ziogas, Argyrios A; Anton-Culver, Hoda H; Gentry-Maharaj, Aleksandra A; Menon, Usha U; Harrington, Patricia P; Lee, Alice W AW; Wu, Anna H AH; Pearce, Celeste L CL; Coetzee, Gerry G; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Timorek, Agnieszka A; Rzepecka, Iwona K IK; Kupryjanczyk, Jolanta J; Freedman, Matt M; Noushmehr, Houtan H; Easton, Douglas F DF; Offit, Kenneth K; Couch, Fergus J FJ; Gayther, Simon S; Pharoah, Paul P PP; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; ,
Publication Date: 2015-02

Variant appearance in text: rs9411378
PubMed Link: 25581431
Variant Present in the following documents:
  • NIHMS647338-supplement-1.pdf
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
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs9411378
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
View BVdb publication page