HNF1A c.326+3363A>G

Variant ID: 12-121420260-A-G

NM_000545.5(HNF1A):c.326+3363A>G

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.

American Journal Of Human Genetics
Smith, Samuel Pattillo SP; Shahamatdar, Sahar S; Cheng, Wei W; Zhang, Selena S; Paik, Joseph J; Graff, Misa M; Haiman, Christopher C; Matise, T C TC; North, Kari E KE; Peters, Ulrike U; Kenny, Eimear E; Gignoux, Chris C; Wojcik, Genevieve G; Crawford, Lorin L; Ramachandran, Sohini S
Publication Date: 2022-05-05

Variant appearance in text: rs7979473
PubMed Link: 35349783
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
Publication Date: 2021-02-02

Variant appearance in text: rs7979473
PubMed Link: 33095540
Variant Present in the following documents:
  • aids-35-193-s001.xlsx, sheet 2
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Genome-wide Association Analysis of Proinflammatory Cytokines and Gene-lifestyle Interaction for Invasive Breast Cancer Risk: The WHI dbGaP Study.

Cancer Prevention Research (Philadelphia, Pa.)
Jung, Su Yon SY; Scott, Peter A PA; Papp, Jeanette C JC; Sobel, Eric M EM; Pellegrini, Matteo M; Yu, Herbert H; Han, Sihao S; Zhang, Zuo-Feng ZF
Publication Date: 2021-01

Variant appearance in text: rs7979473
PubMed Link: 32928877
Variant Present in the following documents:
  • Main text
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A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
Gallois, Apolline A; Mefford, Joel J; Ko, Arthur A; Vaysse, Amaury A; Julienne, Hanna H; Ala-Korpela, Mika M; Laakso, Markku M; Zaitlen, Noah N; Pajukanta, Päivi P; Aschard, Hugues H
Publication Date: 2019-10-21

Variant appearance in text: rs7979473
PubMed Link: 31636271
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12703.pdf
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Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Nature Communications
Yao, Chen C; Chen, George G; Song, Ci C; Keefe, Joshua J; Mendelson, Michael M; Huan, Tianxiao T; Sun, Benjamin B BB; Laser, Annika A; Maranville, Joseph C JC; Wu, Hongsheng H; Ho, Jennifer E JE; Courchesne, Paul P; Lyass, Asya A; Larson, Martin G MG; Gieger, Christian C; Graumann, Johannes J; Johnson, Andrew D AD; Danesh, John J; Runz, Heiko H; Hwang, Shih-Jen SJ; Liu, Chunyu C; Butterworth, Adam S AS; Suhre, Karsten K; Levy, Daniel D
Publication Date: 2018-08-15

Variant appearance in text: rs7979473
PubMed Link: 30111768
Variant Present in the following documents:
  • 41467_2018_5512_MOESM2_ESM.pdf
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Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Human Molecular Genetics
Kocarnik, Jonathan M JM; Richard, Melissa M; Graff, Misa M; Haessler, Jeffrey J; Bien, Stephanie S; Carlson, Chris C; Carty, Cara L CL; Reiner, Alexander P AP; Avery, Christy L CL; Ballantyne, Christie M CM; LaCroix, Andrea Z AZ; Assimes, Themistocles L TL; Barbalic, Maja M; Pankratz, Nathan N; Tang, Weihong W; Tao, Ran R; Chen, Dongquan D; Talavera, Gregory A GA; Daviglus, Martha L ML; Chirinos-Medina, Diana A DA; Pereira, Rocio R; Nishimura, Katie K; Bužková, Petra P; Best, Lyle G LG; Ambite, José Luis JL; Cheng, Iona I; Crawford, Dana C DC; Hindorff, Lucia A LA; Fornage, Myriam M; Heiss, Gerardo G; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Le Marchand, Loic L; Kooperberg, Charles C
Publication Date: 2018-08-15

Variant appearance in text: rs7979473
PubMed Link: 29878111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.

Frontiers In Pharmacology
Labriet, Adrien A; De Mattia, Elena E; Cecchin, Erika E; Lévesque, Éric É; Jonker, Derek D; Couture, Félix F; Buonadonna, Angela A; D'Andrea, Mario M; Villeneuve, Lyne L; Toffoli, Giuseppe G; Guillemette, Chantal C
Publication Date: 2017

Variant appearance in text: rs7979473
PubMed Link: 29066969
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page



Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Nature Genetics
Phelan, Catherine M CM; Kuchenbaecker, Karoline B KB; Tyrer, Jonathan P JP; Kar, Siddhartha P SP; Lawrenson, Kate K; Winham, Stacey J SJ; Dennis, Joe J; Pirie, Ailith A; Riggan, Marjorie J MJ; Chornokur, Ganna G; Earp, Madalene A MA; Lyra, Paulo C PC; Lee, Janet M JM; Coetzee, Simon S; Beesley, Jonathan J; McGuffog, Lesley L; Soucy, Penny P; Dicks, Ed E; Lee, Andrew A; Barrowdale, Daniel D; Lecarpentier, Julie J; Leslie, Goska G; Aalfs, Cora M CM; Aben, Katja K H KKH; Adams, Marcia M; Adlard, Julian J; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N; , ; Aravantinos, Gerasimos G; Arnold, Norbert N; Arun, Banu K BK; Arver, Brita B; Azzollini, Jacopo J; Balmaña, Judith J; Banerjee, Susana N SN; Barjhoux, Laure L; Barkardottir, Rosa B RB; Bean, Yukie Y; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Bernardini, Marcus Q MQ; Birrer, Michael J MJ; Bjorge, Line L; Black, Amanda A; Blankstein, Kenneth K; Blok, Marinus J MJ; Bodelon, Clara C; Bogdanova, Natalia N; Bojesen, Anders A; Bonanni, Bernardo B; Borg, Åke Å; Bradbury, Angela R AR; Brenton, James D JD; Brewer, Carole C; Brinton, Louise L; Broberg, Per P; Brooks-Wilson, Angela A; Bruinsma, Fiona F; Brunet, Joan J; Buecher, Bruno B; Butzow, Ralf R; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Cannioto, Rikki R; Carney, Michael E ME; Cescon, Terence T; Chan, Salina B SB; Chang-Claude, Jenny J; Chanock, Stephen S; Chen, Xiao Qing XQ; Chiew, Yoke-Eng YE; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KBM; Conner, Thomas T; Cook, Linda S LS; Cook, Jackie J; Cramer, Daniel W DW; Cunningham, Julie M JM; D'Aloisio, Aimee A AA; Daly, Mary B MB; Damiola, Francesca F; Damirovna, Sakaeva Dina SD; Dansonka-Mieszkowska, Agnieszka A; Dao, Fanny F; Davidson, Rosemarie R; DeFazio, Anna A; Delnatte, Capucine C; Doheny, Kimberly F KF; Diez, Orland O; Ding, Yuan Chun YC; Doherty, Jennifer Anne JA; Domchek, Susan M SM; Dorfling, Cecilia M CM; Dörk, Thilo T; Dossus, Laure L; Duran, Mercedes M; Dürst, Matthias M; Dworniczak, Bernd B; Eccles, Diana D; Edwards, Todd T; Eeles, Ros R; Eilber, Ursula U; Ejlertsen, Bent B; Ekici, Arif B AB; Ellis, Steve S; Elvira, Mingajeva M; , ; Eng, Kevin H KH; Engel, Christoph C; Evans, D Gareth DG; Fasching, Peter A PA; Ferguson, Sarah S; Ferrer, Sandra Fert SF; Flanagan, James M JM; Fogarty, Zachary C ZC; Fortner, Renée T RT; Fostira, Florentia F; Foulkes, William D WD; Fountzilas, George G; Fridley, Brooke L BL; Friebel, Tara M TM; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; García, María J MJ; Garcia-Barberan, Vanesa V; Gehrig, Andrea A; , ; Gentry-Maharaj, Aleksandra A; Gerdes, Anne-Marie AM; Giles, Graham G GG; Glasspool, Rosalind R; Glendon, Gord G; Godwin, Andrew K AK; Goldgar, David E DE; Goranova, Teodora T; Gore, Martin M; Greene, Mark H MH; Gronwald, Jacek J; Gruber, Stephen S; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hamann, Ute U; Hansen, Thomas V O TVO; Harrington, Patricia A PA; Harris, Holly R HR; Hauke, Jan J; , ; Hein, Alexander A; Henderson, Alex A; Hildebrandt, Michelle A T MAT; Hillemanns, Peter P; Hodgson, Shirley S; Høgdall, Claus K CK; Høgdall, Estrid E; Hogervorst, Frans B L FBL; Holland, Helene H; Hooning, Maartje J MJ; Hosking, Karen K; Huang, Ruea-Yea RY; Hulick, Peter J PJ; Hung, Jillian J; Hunter, David J DJ; Huntsman, David G DG; Huzarski, Tomasz T; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Iversen, Edwin S ES; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jernetz, Mats M; Jensen, Allan A; Jensen, Uffe Birk UB; John, Esther M EM; Johnatty, Sharon S; Jones, Michael E ME; Kannisto, Päivi P; Karlan, Beth Y BY; Karnezis, Anthony A; Kast, Karin K; , ; Kennedy, Catherine J CJ; Khusnutdinova, Elza E; Kiemeney, Lambertus A LA; Kiiski, Johanna I JI; Kim, Sung-Won SW; Kjaer, Susanne K SK; Köbel, Martin M; Kopperud, Reidun K RK; Kruse, Torben A TA; Kupryjanczyk, Jolanta J; Kwong, Ava A; Laitman, Yael Y; Lambrechts, Diether D; Larrañaga, Nerea N; Larson, Melissa C MC; Lazaro, Conxi C; Le, Nhu D ND; Le Marchand, Loic L; Lee, Jong Won JW; Lele, Shashikant B SB; Leminen, Arto A; Leroux, Dominique D; Lester, Jenny J; Lesueur, Fabienne F; Levine, Douglas A DA; Liang, Dong D; Liebrich, Clemens C; Lilyquist, Jenna J; Lipworth, Loren L; Lissowska, Jolanta J; Lu, Karen H KH; Lubinński, Jan J; Luccarini, Craig C; Lundvall, Lene L; Mai, Phuong L PL; Mendoza-Fandiño, Gustavo G; Manoukian, Siranoush S; Massuger, Leon F A G LFAG; May, Taymaa T; Mazoyer, Sylvie S; McAlpine, Jessica N JN; McGuire, Valerie V; McLaughlin, John R JR; McNeish, Iain I; Meijers-Heijboer, Hanne H; Meindl, Alfons A; Menon, Usha U; Mensenkamp, Arjen R AR; Merritt, Melissa A MA; Milne, Roger L RL; Mitchell, Gillian G; Modugno, Francesmary F; Moes-Sosnowska, Joanna J; Moffitt, Melissa M; Montagna, Marco M; Moysich, Kirsten B KB; Mulligan, Anna Marie AM; Musinsky, Jacob J; Nathanson, Katherine L KL; Nedergaard, Lotte L; Ness, Roberta B RB; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Odunsi, Kunle K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Olswold, Curtis C; O'Malley, David M DM; Ong, Kai-Ren KR; Onland-Moret, N Charlotte NC; , ; Orr, Nicholas N; Orsulic, Sandra S; Osorio, Ana A; Palli, Domenico D; Papi, Laura L; Park-Simon, Tjoung-Won TW; Paul, James J; Pearce, Celeste L CL; Pedersen, Inge Søkilde IS; Peeters, Petra H M PHM; Peissel, Bernard B; Peixoto, Ana A; Pejovic, Tanja T; Pelttari, Liisa M LM; Permuth, Jennifer B JB; Peterlongo, Paolo P; Pezzani, Lidia L; Pfeiler, Georg G; Phillips, Kelly-Anne KA; Piedmonte, Marion M; Pike, Malcolm C MC; Piskorz, Anna M AM; Poblete, Samantha R SR; Pocza, Timea T; Poole, Elizabeth M EM; Poppe, Bruce B; Porteous, Mary E ME; Prieur, Fabienne F; Prokofyeva, Darya D; Pugh, Elizabeth E; Pujana, Miquel Angel MA; Pujol, Pascal P; Radice, Paolo P; Rantala, Johanna J; Rappaport-Fuerhauser, Christine C; Rennert, Gad G; Rhiem, Kerstin K; Rice, Patricia P; Richardson, Andrea A; Robson, Mark M; Rodriguez, Gustavo C GC; Rodríguez-Antona, Cristina C; Romm, Jane J; Rookus, Matti A MA; Rossing, Mary Anne MA; Rothstein, Joseph H JH; Rudolph, Anja A; Runnebaum, Ingo B IB; Salvesen, Helga B HB; Sandler, Dale P DP; Schoemaker, Minouk J MJ; Senter, Leigha L; Setiawan, V Wendy VW; Severi, Gianluca G; Sharma, Priyanka P; Shelford, Tameka T; Siddiqui, Nadeem N; Side, Lucy E LE; Sieh, Weiva W; Singer, Christian F CF; Sobol, Hagay H; Song, Honglin H; Southey, Melissa C MC; Spurdle, Amanda B AB; Stadler, Zsofia Z; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sucheston-Campbell, Lara E LE; Sukiennicki, Grzegorz G; Sutphen, Rebecca R; Sutter, Christian C; Swerdlow, Anthony J AJ; Szabo, Csilla I CI; Szafron, Lukasz L; Tan, Yen Y YY; Taylor, Jack A JA; Tea, Muy-Kheng MK; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Thomsen, Liv Cecilie Vestrheim LCV; Thull, Darcy L DL; Tihomirova, Laima L; Tinker, Anna V AV; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Tone, Alicia A; Trabert, Britton B; Travis, Ruth C RC; Trichopoulou, Antonia A; Tung, Nadine N; Tworoger, Shelley S SS; van Altena, Anne M AM; Van Den Berg, David D; van der Hout, Annemarie H AH; van der Luijt, Rob B RB; Van Heetvelde, Mattias M; Van Nieuwenhuysen, Els E; van Rensburg, Elizabeth J EJ; Vanderstichele, Adriaan A; Varon-Mateeva, Raymonda R; Vega, Ana A; Edwards, Digna Velez DV; Vergote, Ignace I; Vierkant, Robert A RA; Vijai, Joseph J; Vratimos, Athanassios A; Walker, Lisa L; Walsh, Christine C; Wand, Dorothea D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Webb, Penelope M PM; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wentzensen, Nicolas N; Whittemore, Alice S AS; Wijnen, Juul T JT; Wilkens, Lynne R LR; Wolk, Alicja A; Woo, Michelle M; Wu, Xifeng X; Wu, Anna H AH; Yang, Hannah H; Yannoukakos, Drakoulis D; Ziogas, Argyrios A; Zorn, Kristin K KK; Narod, Steven A SA; Easton, Douglas F DF; Amos, Christopher I CI; Schildkraut, Joellen M JM; Ramus, Susan J SJ; Ottini, Laura L; Goodman, Marc T MT; Park, Sue K SK; Kelemen, Linda E LE; Risch, Harvey A HA; Thomassen, Mads M; Offit, Kenneth K; Simard, Jacques J; Schmutzler, Rita Katharina RK; Hazelett, Dennis D; Monteiro, Alvaro N AN; Couch, Fergus J FJ; Berchuck, Andrew A; Chenevix-Trench, Georgia G; Goode, Ellen L EL; Sellers, Thomas A TA; Gayther, Simon A SA; Antoniou, Antonis C AC; Pharoah, Paul D P PDP
Publication Date: 2017-05

Variant appearance in text: rs7979473
PubMed Link: 28346442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Insulin Resistance and the Metabolic Syndrome.

Current Cardiology Reports
Brown, Audrey E AE; Walker, Mark M
Publication Date: 2016-08

Variant appearance in text: rs7979473
PubMed Link: 27312935
Variant Present in the following documents:
  • Main text
  • 11886_2016_Article_755.pdf
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New insights from monogenic diabetes for "common" type 2 diabetes.

Frontiers In Genetics
Tallapragada, Divya Sri Priyanka DS; Bhaskar, Seema S; Chandak, Giriraj R GR
Publication Date: 2015

Variant appearance in text: rs7979473
PubMed Link: 26300908
Variant Present in the following documents:
  • Main text
  • fgene-06-00251.pdf
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Use of systems biology approaches to analysis of genome-wide association studies of myocardial infarction and blood cholesterol in the nurses' health study and health professionals' follow-up study.

Plos One
Reilly, Dermot D; Hao, Ke K; Jensen, Majken K MK; Girman, Cynthia J CJ; Rimm, Eric B EB
Publication Date: 2013

Variant appearance in text: rs7979473
PubMed Link: 24386469
Variant Present in the following documents:
  • Main text
  • pone.0085369.pdf
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Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.

American Journal Of Human Genetics
Reiner, Alex P AP; Beleza, Sandra S; Franceschini, Nora N; Auer, Paul L PL; Robinson, Jennifer G JG; Kooperberg, Charles C; Peters, Ulrike U; Tang, Hua H
Publication Date: 2012-09-07

Variant appearance in text: rs7979473
PubMed Link: 22939635
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains.

Plos Genetics
Avery, Christy L CL; He, Qianchuan Q; North, Kari E KE; Ambite, Jose L JL; Boerwinkle, Eric E; Fornage, Myriam M; Hindorff, Lucia A LA; Kooperberg, Charles C; Meigs, James B JB; Pankow, James S JS; Pendergrass, Sarah A SA; Psaty, Bruce M BM; Ritchie, Marylyn D MD; Rotter, Jerome I JI; Taylor, Kent D KD; Wilkens, Lynne R LR; Heiss, Gerardo G; Lin, Dan Yu DY
Publication Date: 2011-10

Variant appearance in text: rs7979473
PubMed Link: 22022282
Variant Present in the following documents:
  • Main text
  • pgen.1002322.pdf
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Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

American Journal Of Human Genetics
Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM
Publication Date: 2008-05

Variant appearance in text: rs7979473
PubMed Link: 18439552
Variant Present in the following documents:
  • Main text
View BVdb publication page