ITIH1 c.688-51T>C

Variant ID: 3-52815905-T-C

NM_002215.3(ITIH1):c.688-51T>C

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.

Investigative Ophthalmology & Visual Science
Cole, Brian S BS; Gudiseva, Harini V HV; Pistilli, Maxwell M; Salowe, Rebecca R; McHugh, Caitlin P CP; Zody, Michael C MC; Chavali, Venkata R M VRM; Ying, Gui Shuang GS; Moore, Jason H JH; O'Brien, Joan M JM
Publication Date: 2021-02-01

Variant appearance in text: rs2710323
PubMed Link: 33605984
Variant Present in the following documents:
  • Main text
  • iovs-62-2-28.pdf
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Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs.

Genome Biology
Do, Catherine C; Dumont, Emmanuel L P ELP; Salas, Martha M; Castano, Angelica A; Mujahed, Huthayfa H; Maldonado, Leonel L; Singh, Arunjot A; DaSilva-Arnold, Sonia C SC; Bhagat, Govind G; Lehman, Soren S; Christiano, Angela M AM; Madhavan, Subha S; Nagy, Peter L PL; Green, Peter H R PHR; Feinman, Rena R; Trimble, Cornelia C; Illsley, Nicholas P NP; Marder, Karen K; Honig, Lawrence L; Monk, Catherine C; Goy, Andre A; Chow, Kar K; Goldlust, Samuel S; Kaptain, George G; Siegel, David D; Tycko, Benjamin B
Publication Date: 2020-06-29

Variant appearance in text: rs2710323
PubMed Link: 32594908
Variant Present in the following documents:
  • Main text
  • 13059_2020_Article_2059.pdf
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The Role of Genetic Variation of BMI, Body Composition, and Fat Distribution for Mental Traits and Disorders: A Look-Up and Mendelian Randomization Study.

Frontiers In Genetics
Peters, Triinu T; Nüllig, Lena L; Antel, Jochen J; Naaresh, Roaa R; Laabs, Björn-Hergen BH; Tegeler, Lisa L; Amhaouach, Chaima C; Libuda, Lars L; Hinney, Anke A; Hebebrand, Johannes J
Publication Date: 2020

Variant appearance in text: rs2710323
PubMed Link: 32373164
Variant Present in the following documents:
  • Main text
  • fgene-11-00373.pdf
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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: ITIH1: 688-51T>C; rs2710323
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Physical Interactions and Expression Quantitative Traits Loci Identify Regulatory Connections for Obesity and Type 2 Diabetes Associated SNPs.

Frontiers In Genetics
Fadason, Tayaza T; Ekblad, Cameron C; Ingram, John R JR; Schierding, William S WS; O'Sullivan, Justin M JM
Publication Date: 2017

Variant appearance in text: rs2710323
PubMed Link: 29081791
Variant Present in the following documents:
  • Main text
  • fgene-08-00150.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2710323
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2710323
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Nature Genetics
Gharahkhani, Puya P; Burdon, Kathryn P KP; Fogarty, Rhys R; Sharma, Shiwani S; Hewitt, Alex W AW; Martin, Sarah S; Law, Matthew H MH; Cremin, Katie K; Bailey, Jessica N Cooke JNC; Loomis, Stephanie J SJ; Pasquale, Louis R LR; Haines, Jonathan L JL; Hauser, Michael A MA; Viswanathan, Ananth C AC; McGuffin, Peter P; Topouzis, Fotis F; Foster, Paul J PJ; Graham, Stuart L SL; Casson, Robert J RJ; Chehade, Mark M; White, Andrew J AJ; Zhou, Tiger T; Souzeau, Emmanuelle E; Landers, John J; Fitzgerald, Jude T JT; Klebe, Sonja S; Ruddle, Jonathan B JB; Goldberg, Ivan I; Healey, Paul R PR; , ; Mills, Richard A RA; Wang, Jie Jin JJ; Montgomery, Grant W GW; Martin, Nicholas G NG; RadfordSmith, Graham G; Whiteman, David C DC; Brown, Matthew A MA; Wiggs, Janey L JL; Mackey, David A DA; Mitchell, Paul P; MacGregor, Stuart S; Craig, Jamie E JE
Publication Date: 2014-10

Variant appearance in text: rs2710323
PubMed Link: 25173105
Variant Present in the following documents:
  • Main text
  • emss-59932.pdf
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GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.

Scientific Reports
Sleiman, Patrick P; Wang, Dai D; Glessner, Joseph J; Hadley, Dexter D; Gur, Raquel E RE; Cohen, Nadine N; Li, Qingqin Q; Hakonarson, Hakon H; ,
Publication Date: 2013-10-29

Variant appearance in text: rs2710323
PubMed Link: 24166486
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Plos Genetics
Dastani, Zari Z; Hivert, Marie-France MF; Timpson, Nicholas N; Perry, John R B JR; Yuan, Xin X; Scott, Robert A RA; Henneman, Peter P; Heid, Iris M IM; Kizer, Jorge R JR; Lyytikäinen, Leo-Pekka LP; Fuchsberger, Christian C; Tanaka, Toshiko T; Morris, Andrew P AP; Small, Kerrin K; Isaacs, Aaron A; Beekman, Marian M; Coassin, Stefan S; Lohman, Kurt K; Qi, Lu L; Kanoni, Stavroula S; Pankow, James S JS; Uh, Hae-Won HW; Wu, Ying Y; Bidulescu, Aurelian A; Rasmussen-Torvik, Laura J LJ; Greenwood, Celia M T CM; Ladouceur, Martin M; Grimsby, Jonna J; Manning, Alisa K AK; Liu, Ching-Ti CT; Kooner, Jaspal J; Mooser, Vincent E VE; Vollenweider, Peter P; Kapur, Karen A KA; Chambers, John J; Wareham, Nicholas J NJ; Langenberg, Claudia C; Frants, Rune R; Willems-Vandijk, Ko K; Oostra, Ben A BA; Willems, Sara M SM; Lamina, Claudia C; Winkler, Thomas W TW; Psaty, Bruce M BM; Tracy, Russell P RP; Brody, Jennifer J; Chen, Ida I; Viikari, Jorma J; Kähönen, Mika M; Pramstaller, Peter P PP; Evans, David M DM; St Pourcain, Beate B; Sattar, Naveed N; Wood, Andrew R AR; Bandinelli, Stefania S; Carlson, Olga D OD; Egan, Josephine M JM; Böhringer, Stefan S; van Heemst, Diana D; Kedenko, Lyudmyla L; Kristiansson, Kati K; Nuotio, Marja-Liisa ML; Loo, Britt-Marie BM; Harris, Tamara T; Garcia, Melissa M; Kanaya, Alka A; Haun, Margot M; Klopp, Norman N; Wichmann, H-Erich HE; Deloukas, Panos P; Katsareli, Efi E; Couper, David J DJ; Duncan, Bruce B BB; Kloppenburg, Margreet M; Adair, Linda S LS; Borja, Judith B JB; , ; , ; , ; , ; Wilson, James G JG; Musani, Solomon S; Guo, Xiuqing X; Johnson, Toby T; Semple, Robert R; Teslovich, Tanya M TM; Allison, Matthew A MA; Redline, Susan S; Buxbaum, Sarah G SG; Mohlke, Karen L KL; Meulenbelt, Ingrid I; Ballantyne, Christie M CM; Dedoussis, George V GV; Hu, Frank B FB; Liu, Yongmei Y; Paulweber, Bernhard B; Spector, Timothy D TD; Slagboom, P Eline PE; Ferrucci, Luigi L; Jula, Antti A; Perola, Markus M; Raitakari, Olli O; Florez, Jose C JC; Salomaa, Veikko V; Eriksson, Johan G JG; Frayling, Timothy M TM; Hicks, Andrew A AA; Lehtimäki, Terho T; Smith, George Davey GD; Siscovick, David S DS; Kronenberg, Florian F; van Duijn, Cornelia C; Loos, Ruth J F RJ; Waterworth, Dawn M DM; Meigs, James B JB; Dupuis, Josee J; Richards, J Brent JB; Voight, Benjamin F BF; Scott, Laura J LJ; Steinthorsdottir, Valgerdur V; Dina, Christian C; Welch, Ryan P RP; Zeggini, Eleftheria E; Huth, Cornelia C; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; McCulloch, Laura J LJ; Ferreira, Teresa T; Grallert, Harald H; Amin, Najaf N; Wu, Guanming G; Willer, Cristen J CJ; Raychaudhuri, Soumya S; McCarroll, Steve A SA; Hofmann, Oliver M OM; Segrè, Ayellet V AV; van Hoek, Mandy M; Navarro, Pau P; Ardlie, Kristin K; Balkau, Beverley B; Benediktsson, Rafn R; Bennett, Amanda J AJ; Blagieva, Roza R; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Boström, Kristina Bengtsson KB; Bravenboer, Bert B; Bumpstead, Suzannah S; Burtt, Noël P NP; Charpentier, Guillaume G; Chines, Peter S PS; Cornelis, Marilyn M; Crawford, Gabe G; Doney, Alex S F AS; Elliott, Katherine S KS; Elliott, Amanda L AL; Erdos, Michael R MR; Fox, Caroline S CS; Franklin, Christopher S CS; Ganser, Martha M; Gieger, Christian C; Grarup, Niels N; Green, Todd T; Griffin, Simon S; Groves, Christopher J CJ; Guiducci, Candace C; Hadjadj, Samy S; Hassanali, Neelam N; Herder, Christian C; Isomaa, Bo B; Jackson, Anne U AU; Johnson, Paul R V PR; Jørgensen, Torben T; Kao, Wen H L WH; Kong, Augustine A; Kraft, Peter P; Kuusisto, Johanna J; Lauritzen, Torsten T; Li, Man M; Lieverse, Aloysius A; Lindgren, Cecilia M CM; Lyssenko, Valeriya V; Marre, Michel M; Meitinger, Thomas T; Midthjell, Kristian K; Morken, Mario A MA; Narisu, Narisu N; Nilsson, Peter P; Owen, Katharine R KR; Payne, Felicity F; Petersen, Ann-Kristin AK; Platou, Carl C; Proença, Christine C; Prokopenko, Inga I; Rathmann, Wolfgang W; Rayner, N William NW; Robertson, Neil R NR; Rocheleau, Ghislain G; Roden, Michael M; Sampson, Michael J MJ; Saxena, Richa R; Shields, Beverley M BM; Shrader, Peter P; Sigurdsson, Gunnar G; Sparsø, Thomas T; Strassburger, Klaus K; Stringham, Heather M HM; Sun, Qi Q; Swift, Amy J AJ; Thorand, Barbara B; Tichet, Jean J; Tuomi, Tiinamaija T; van Dam, Rob M RM; van Haeften, Timon W TW; van Herpt, Thijs T; van Vliet-Ostaptchouk, Jana V JV; Walters, G Bragi GB; Weedon, Michael N MN; Wijmenga, Cisca C; Witteman, Jacqueline J; Bergman, Richard N RN; Cauchi, Stephane S; Collins, Francis S FS; Gloyn, Anna L AL; Gyllensten, Ulf U; Hansen, Torben T; Hide, Winston A WA; Hitman, Graham A GA; Hofman, Albert A; Hunter, David J DJ; Hveem, Kristian K; Laakso, Markku M; Morris, Andrew D AD; Palmer, Colin N A CN; Rudan, Igor I; Sijbrands, Eric E; Stein, Lincoln D LD; Tuomilehto, Jaakko J; Uitterlinden, Andre A; Walker, Mark M; Watanabe, Richard M RM; Abecasis, Goncalo R GR; Boehm, Bernhard O BO; Campbell, Harry H; Daly, Mark J MJ; Hattersley, Andrew T AT; Pedersen, Oluf O; Barroso, Inês I; Groop, Leif L; Sladek, Rob R; Thorsteinsdottir, Unnur U; Wilson, James F JF; Illig, Thomas T; Froguel, Philippe P; van Duijn, Cornelia M CM; Stefansson, Kari K; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; Soranzo, Nicole N; Wheeler, Eleanor E; Glazer, Nicole L NL; Bouatia-Naji, Nabila N; Mägi, Reedik R; Randall, Joshua J; Elliott, Paul P; Rybin, Denis D; Dehghan, Abbas A; Hottenga, Jouke Jan JJ; Song, Kijoung K; Goel, Anuj A; Lajunen, Taina T; Doney, Alex A; Cavalcanti-Proença, Christine C; Kumari, Meena M; Timpson, Nicholas J NJ; Zabena, Carina C; Ingelsson, Erik E; An, Ping P; O'Connell, Jeffrey J; Luan, Jian'an J; Elliott, Amanda A; McCarroll, Steven A SA; Roccasecca, Rosa Maria RM; Pattou, François F; Sethupathy, Praveen P; Ariyurek, Yavuz Y; Barter, Philip P; Beilby, John P JP; Ben-Shlomo, Yoav Y; Bergmann, Sven S; Bochud, Murielle M; Bonnefond, Amélie A; Borch-Johnsen, Knut K; Böttcher, Yvonne Y; Brunner, Eric E; Bumpstead, Suzannah J SJ; Chen, Yii-Der Ida YD; Chines, Peter P; Clarke, Robert R; Coin, Lachlan J M LJ; Cooper, Matthew N MN; Crisponi, Laura L; Day, Ian N M IN; de Geus, Eco J C EJ; Delplanque, Jerome J; Fedson, Annette C AC; Fischer-Rosinsky, Antje A; Forouhi, Nita G NG; Franzosi, Maria Grazia MG; Galan, Pilar P; Goodarzi, Mark O MO; Graessler, Jürgen J; Grundy, Scott S; Gwilliam, Rhian R; Hallmans, Göran G; Hammond, Naomi N; Han, Xijing X; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Heath, Simon C SC; Hercberg, Serge S; Hillman, David R DR; Hingorani, Aroon D AD; Hui, Jennie J; Hung, Joe J; Kaakinen, Marika M; Kaprio, Jaakko J; Kesaniemi, Y Antero YA; Kivimaki, Mika M; Knight, Beatrice B; Koskinen, Seppo S; Kovacs, Peter P; Kyvik, Kirsten Ohm KO; Lathrop, G Mark GM; Lawlor, Debbie A DA; Le Bacquer, Olivier O; Lecoeur, Cécile C; Li, Yun Y; Mahley, Robert R; Mangino, Massimo M; Martínez-Larrad, María Teresa MT; McAteer, Jarred B JB; McPherson, Ruth R; Meisinger, Christa C; Melzer, David D; Meyre, David D; Mitchell, Braxton D BD; Mukherjee, Sutapa S; Naitza, Silvia S; Neville, Matthew J MJ; Orrù, Marco M; Pakyz, Ruth R; Paolisso, Giuseppe G; Pattaro, Cristian C; Pearson, Daniel D; Peden, John F JF; Pedersen, Nancy L NL; Pfeiffer, Andreas F H AF; Pichler, Irene I; Polasek, Ozren O; Posthuma, Danielle D; Potter, Simon C SC; Pouta, Anneli A; Province, Michael A MA; Rayner, Nigel W NW; Rice, Kenneth K; Ripatti, Samuli S; Rivadeneira, Fernando F; Rolandsson, Olov O; Sandbaek, Annelli A; Sandhu, Manjinder M; Sanna, Serena S; Sayer, Avan Aihie AA; Scheet, Paul P; Seedorf, Udo U; Sharp, Stephen J SJ; Shields, Beverley B; Sigurðsson, Gunnar G; Sijbrands, Eric J G EJ; Silveira, Angela A; Simpson, Laila L; Singleton, Andrew A; Smith, Nicholas L NL; Sovio, Ulla U; Swift, Amy A; Syddall, Holly H; Syvänen, Ann-Christine AC; Tönjes, Anke A; Uitterlinden, André G AG; van Dijk, Ko Willems KW; Varma, Dhiraj D; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogelzangs, Nicole N; Waeber, Gérard G; Wagner, Peter J PJ; Walley, Andrew A; Ward, Kim L KL; Watkins, Hugh H; Wild, Sarah H SH; Willemsen, Gonneke G; Witteman, Jaqueline C M JC; Yarnell, John W G JW; Zelenika, Diana D; Zethelius, Björn B; Zhai, Guangju G; Zhao, Jing Hua JH; Zillikens, M Carola MC; , ; , ; , ; Borecki, Ingrid B IB; Meneton, Pierre P; Magnusson, Patrik K E PK; Nathan, David M DM; Williams, Gordon H GH; Silander, Kaisa K; Bornstein, Stefan R SR; Schwarz, Peter P; Spranger, Joachim J; Karpe, Fredrik F; Shuldiner, Alan R AR; Cooper, Cyrus C; Serrano-Ríos, Manuel M; Lind, Lars L; Palmer, Lyle J LJ; Hu, Frank B FB; Franks, Paul W PW; Ebrahim, Shah S; Marmot, Michael M; Kao, W H Linda WH; Pramstaller, Peter Paul PP; Wright, Alan F AF; Stumvoll, Michael M; Hamsten, Anders A; , ; Buchanan, Thomas A TA; Valle, Timo T TT; Rotter, Jerome I JI; Penninx, Brenda W J H BW; Boomsma, Dorret I DI; Cao, Antonio A; Scuteri, Angelo A; Schlessinger, David D; Uda, Manuela M; Ruokonen, Aimo A; Jarvelin, Marjo-Riitta MR; Peltonen, Leena L; Mooser, Vincent V; Sladek, Robert R; , ; , ; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Chasman, Daniel I DI; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Feitosa, Mary F MF; Orho-Melander, Marju M; Melander, Olle O; Li, Xiaohui X; Li, Mingyao M; Cho, Yoon Shin YS; Go, Min Jin MJ; Kim, Young Jin YJ; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Ong, Rick Twee-Hee RT; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Whitfield, John B JB; Thompson, John R JR; Surakka, Ida I; Spector, Tim D TD; Smit, Johannes H JH; Sinisalo, Juha J; Scott, James J; Saharinen, Juha J; Sabatti, Chiara C; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Parker, Alex N AN; Pare, Guillaume G; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Lucas, Gavin G; Luben, Robert R; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; König, Inke R IR; Khaw, Kay-Tee KT; Kaplan, Lee M LM; Johansson, Åsa Å; Janssens, A Cecile J W AC; Igl, Wilmar W; Hovingh, G Kees GK; Hengstenberg, Christian C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Groop, Leif C LC; Gonzalez, Elena E; Freimer, Nelson B NB; Erdmann, Jeanette J; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Faire, Ulf U; Crawford, Gabriel G; Chen, Yii-der I YD; Caulfield, Mark J MJ; Boekholdt, S Matthijs SM; Assimes, Themistocles L TL; Quertermous, Thomas T; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Taylor, Herman A HA; Gabriel, Stacey B SB; Holm, Hilma H; Gudnason, Vilmundur V; Krauss, Ronald M RM; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Strachan, David P DP; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; Kathiresan, Sekar S
Publication Date: 2012

Variant appearance in text: rs2710323
PubMed Link: 22479202
Variant Present in the following documents:
  • Main text
  • pgen.1002607.pdf
View BVdb publication page