ESR1 c.760+27944G>A

Variant ID: 6-152229850-G-A

NM_000125.3(ESR1):c.760+27944G>A

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review.

Women'S Health (London, England)
van der Vaart, Joy-Fleur JF; Merki-Feld, Gabriele Susanne GS
Publication Date: 2022

Variant appearance in text: rs2347867
PubMed Link: 35848345
Variant Present in the following documents:
  • Main text
  • 10.1177_17455057221111315.pdf
View BVdb publication page



Age at first birth and lung cancer: a two-sample Mendelian randomization study.

Translational Lung Cancer Research
Peng, Haoxin H; Wu, Xiangrong X; Wen, Yaokai Y; Du, Xiaoqin X; Li, Caichen C; Liang, Hengrui H; Lin, Jinsheng J; Liu, Jun J; Ge, Fan F; Huo, Zhenyu Z; He, Jianxing J; Liang, Wenhua W
Publication Date: 2021-04

Variant appearance in text: rs2347867
PubMed Link: 34012788
Variant Present in the following documents:
  • Main text
  • tlcr-10-04-1720.pdf
View BVdb publication page



DOT: Gene-set analysis by combining decorrelated association statistics.

Plos Computational Biology
Vsevolozhskaya, Olga A OA; Shi, Min M; Hu, Fengjiao F; Zaykin, Dmitri V DV
Publication Date: 2020-04

Variant appearance in text: rs2347867
PubMed Link: 32287273
Variant Present in the following documents:
  • Main text
  • pcbi.1007819.pdf
View BVdb publication page



Polymorphisms in sex steroid receptors: From gene sequence to behavior.

Frontiers In Neuroendocrinology
Maney, Donna L DL
Publication Date: 2017-10

Variant appearance in text: rs2347867
PubMed Link: 28705582
Variant Present in the following documents:
  • Main text
View BVdb publication page



An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors.

Breast Cancer (Dove Medical Press)
Koleck, Theresa A TA; Bender, Catherine M CM; Clark, Beth Z BZ; Ryan, Christopher M CM; Ghotkar, Puja P; Brufsky, Adam A; McAuliffe, Priscilla F PF; Rastogi, Priya P; Sereika, Susan M SM; Conley, Yvette P YP
Publication Date: 2017

Variant appearance in text: rs2347867
PubMed Link: 28424560
Variant Present in the following documents:
  • Main text
  • bctt-9-095.pdf
View BVdb publication page



Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Nature Genetics
Barban, Nicola N; Jansen, Rick R; de Vlaming, Ronald R; Vaez, Ahmad A; Mandemakers, Jornt J JJ; Tropf, Felix C FC; Shen, Xia X; Wilson, James F JF; Chasman, Daniel I DI; Nolte, Ilja M IM; Tragante, Vinicius V; van der Laan, Sander W SW; Perry, John R B JR; Kong, Augustine A; , ; Ahluwalia, Tarunveer S TS; Albrecht, Eva E; Yerges-Armstrong, Laura L; Atzmon, Gil G; Auro, Kirsi K; Ayers, Kristin K; Bakshi, Andrew A; Ben-Avraham, Danny D; Berger, Klaus K; Bergman, Aviv A; Bertram, Lars L; Bielak, Lawrence F LF; Bjornsdottir, Gyda G; Bonder, Marc Jan MJ; Broer, Linda L; Bui, Minh M; Barbieri, Caterina C; Cavadino, Alana A; Chavarro, Jorge E JE; Turman, Constance C; Concas, Maria Pina MP; Cordell, Heather J HJ; Davies, Gail G; Eibich, Peter P; Eriksson, Nicholas N; Esko, Tõnu T; Eriksson, Joel J; Falahi, Fahimeh F; Felix, Janine F JF; Fontana, Mark Alan MA; Franke, Lude L; Gandin, Ilaria I; Gaskins, Audrey J AJ; Gieger, Christian C; Gunderson, Erica P EP; Guo, Xiuqing X; Hayward, Caroline C; He, Chunyan C; Hofer, Edith E; Huang, Hongyan H; Joshi, Peter K PK; Kanoni, Stavroula S; Karlsson, Robert R; Kiechl, Stefan S; Kifley, Annette A; Kluttig, Alexander A; Kraft, Peter P; Lagou, Vasiliki V; Lecoeur, Cecile C; Lahti, Jari J; Li-Gao, Ruifang R; Lind, Penelope A PA; Liu, Tian T; Makalic, Enes E; Mamasoula, Crysovalanto C; Matteson, Lindsay L; Mbarek, Hamdi H; McArdle, Patrick F PF; McMahon, George G; Meddens, S Fleur W SF; Mihailov, Evelin E; Miller, Mike M; Missmer, Stacey A SA; Monnereau, Claire C; van der Most, Peter J PJ; Myhre, Ronny R; Nalls, Mike A MA; Nutile, Teresa T; Kalafati, Ioanna Panagiota IP; Porcu, Eleonora E; Prokopenko, Inga I; Rajan, Kumar B KB; Rich-Edwards, Janet J; Rietveld, Cornelius A CA; Robino, Antonietta A; Rose, Lynda M LM; Rueedi, Rico R; Ryan, Kathleen A KA; Saba, Yasaman Y; Schmidt, Daniel D; Smith, Jennifer A JA; Stolk, Lisette L; Streeten, Elizabeth E; Tönjes, Anke A; Thorleifsson, Gudmar G; Ulivi, Sheila S; Wedenoja, Juho J; Wellmann, Juergen J; Willeit, Peter P; Yao, Jie J; Yengo, Loic L; Zhao, Jing Hua JH; Zhao, Wei W; Zhernakova, Daria V DV; Amin, Najaf N; Andrews, Howard H; Balkau, Beverley B; Barzilai, Nir N; Bergmann, Sven S; Biino, Ginevra G; Bisgaard, Hans H; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Buring, Julie E JE; Campbell, Harry H; Cappellani, Stefania S; Ciullo, Marina M; Cox, Simon R SR; Cucca, Francesco F; Toniolo, Daniela D; Davey-Smith, George G; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; van Duijn, Cornelia M CM; de Geus, Eco J C EJ; Eriksson, Johan G JG; Evans, Denis A DA; Faul, Jessica D JD; Sala, Cinzia Felicita CF; Froguel, Philippe P; Gasparini, Paolo P; Girotto, Giorgia G; Grabe, Hans-Jörgen HJ; Greiser, Karin Halina KH; Groenen, Patrick J F PJ; de Haan, Hugoline G HG; Haerting, Johannes J; Harris, Tamara B TB; Heath, Andrew C AC; Heikkilä, Kauko K; Hofman, Albert A; Homuth, Georg G; Holliday, Elizabeth G EG; Hopper, John J; Hyppönen, Elina E; Jacobsson, Bo B; Jaddoe, Vincent W V VW; Johannesson, Magnus M; Jugessur, Astanand A; Kähönen, Mika M; Kajantie, Eero E; Kardia, Sharon L R SL; Keavney, Bernard B; Kolcic, Ivana I; Koponen, Päivikki P; Kovacs, Peter P; Kronenberg, Florian F; Kutalik, Zoltan Z; La Bianca, Martina M; Lachance, Genevieve G; Iacono, William G WG; Lai, Sandra S; Lehtimäki, Terho T; Liewald, David C DC; , ; Lindgren, Cecilia M CM; Liu, Yongmei Y; Luben, Robert R; Lucht, Michael M; Luoto, Riitta R; Magnus, Per P; Magnusson, Patrik K E PK; Martin, Nicholas G NG; McGue, Matt M; McQuillan, Ruth R; Medland, Sarah E SE; Meisinger, Christa C; Mellström, Dan D; Metspalu, Andres A; Traglia, Michela M; Milani, Lili L; Mitchell, Paul P; Montgomery, Grant W GW; Mook-Kanamori, Dennis D; de Mutsert, Renée R; Nohr, Ellen A EA; Ohlsson, Claes C; Olsen, Jørn J; Ong, Ken K KK; Paternoster, Lavinia L; Pattie, Alison A; Penninx, Brenda W J H BW; Perola, Markus M; Peyser, Patricia A PA; Pirastu, Mario M; Polasek, Ozren O; Power, Chris C; Kaprio, Jaakko J; Raffel, Leslie J LJ; Räikkönen, Katri K; Raitakari, Olli O; Ridker, Paul M PM; Ring, Susan M SM; Roll, Kathryn K; Rudan, Igor I; Ruggiero, Daniela D; Rujescu, Dan D; Salomaa, Veikko V; Schlessinger, David D; Schmidt, Helena H; Schmidt, Reinhold R; Schupf, Nicole N; Smit, Johannes J; Sorice, Rossella R; Spector, Tim D TD; Starr, John M JM; Stöckl, Doris D; Strauch, Konstantin K; Stumvoll, Michael M; Swertz, Morris A MA; Thorsteinsdottir, Unnur U; Thurik, A Roy AR; Timpson, Nicholas J NJ; Tung, Joyce Y JY; Uitterlinden, André G AG; Vaccargiu, Simona S; Viikari, Jorma J; Vitart, Veronique V; Völzke, Henry H; Vollenweider, Peter P; Vuckovic, Dragana D; Waage, Johannes J; Wagner, Gert G GG; Wang, Jie Jin JJ; Wareham, Nicholas J NJ; Weir, David R DR; Willemsen, Gonneke G; Willeit, Johann J; Wright, Alan F AF; Zondervan, Krina T KT; Stefansson, Kari K; Krueger, Robert F RF; Lee, James J JJ; Benjamin, Daniel J DJ; Cesarini, David D; Koellinger, Philipp D PD; den Hoed, Marcel M; Snieder, Harold H; Mills, Melinda C MC
Publication Date: 2016-12

Variant appearance in text: rs2347867
PubMed Link: 27798627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in the estrogen receptor alpha gene (ESR1), daily cycling estrogen and mammographic density phenotypes.

Bmc Cancer
Fjeldheim, F N FN; Frydenberg, H H; Flote, V G VG; McTiernan, A A; Furberg, A-S AS; Ellison, P T PT; Barrett, E S ES; Wilsgaard, T T; Jasienska, G G; Ursin, G G; Wist, E A EA; Thune, I I
Publication Date: 2016-10-07

Variant appearance in text: rs2347867
PubMed Link: 27717337
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.

European Journal Of Endocrinology
Stevens, Adam A; Murray, Philip P; Wojcik, Jerome J; Raelson, John J; Koledova, Ekaterina E; Chatelain, Pierre P; Clayton, Peter P; ,
Publication Date: 2016-12

Variant appearance in text: rs2347867
PubMed Link: 27651465
Variant Present in the following documents:
  • Main text
  • eje-175-633.pdf
View BVdb publication page



Estrogen Receptor Alpha (ESR1) Single-Nucleotide Polymorphisms (SNPs) Affect Malignant Melanoma Susceptibility and Disease Course.

Genetics & Epigenetics
Glatthaar, Hanna H; Katto, Judith J; Vogt, Thomas T; Mahlknecht, Ulrich U
Publication Date: 2016

Variant appearance in text: rs2347867
PubMed Link: 26949342
Variant Present in the following documents:
  • Main text
  • geg-8-2016-001.pdf
View BVdb publication page



The Genetic and Environmental Factors Underlying Hypospadias.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, And Pathology Of Sex Determination And Differentiation
Bouty, Aurore A; Ayers, Katie L KL; Pask, Andrew A; Heloury, Yves Y; Sinclair, Andrew H AH
Publication Date: 2015

Variant appearance in text: rs2347867
PubMed Link: 26613581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort.

Dementia And Geriatric Cognitive Disorders
Janicki, S C SC; Park, N N; Cheng, R R; Clark, L N LN; Lee, J H JH; Schupf, N N
Publication Date: 2014

Variant appearance in text: rs2347867
PubMed Link: 24732579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012

Variant appearance in text: rs2347867
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
View BVdb publication page



ESR1 single nucleotide polymorphisms predict breast cancer susceptibility in the central European Caucasian population.

International Journal Of Clinical And Experimental Medicine
Lipphardt, Mark F MF; Deryal, Mustafa M; Ong, Mei Fang MF; Schmidt, Werner W; Mahlknecht, Ulrich U
Publication Date: 2013

Variant appearance in text: rs2347867
PubMed Link: 23641305
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of multiple risk-associated single nucleotide polymorphisms versus prostate-specific antigen at baseline to predict prostate cancer in unscreened men.

European Urology
Klein, Robert J RJ; Hallden, Christer C; Gupta, Amit A; Savage, Caroline J CJ; Dahlin, Anders A; Bjartell, Anders A; Manjer, Jonas J; Scardino, Peter T PT; Ulmert, David D; Wallström, Peter P; Vickers, Andrew J AJ; Lilja, Hans H
Publication Date: 2012-03

Variant appearance in text: rs2347867
PubMed Link: 22101116
Variant Present in the following documents:
  • Main text
View BVdb publication page



Can rye intake decrease risk of human breast cancer?

Food & Nutrition Research
Adlercreutz, Herman H
Publication Date: 2010-11-10

Variant appearance in text: rs2347867
PubMed Link: 21311613
Variant Present in the following documents:
  • Main text
  • FNR-54-5231.pdf
View BVdb publication page



Sex hormone receptor gene polymorphisms and migraine: a systematic review and meta-analysis.

Cephalalgia : An International Journal Of Headache
Schürks, Markus M; Rist, Pamela M PM; Kurth, Tobias T
Publication Date: 2010-11

Variant appearance in text: rs2347867
PubMed Link: 20959426
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of estrogen receptor alpha gene (ESR1) polymorphisms, mood, and cognition.

Menopause (New York, N.Y.)
Sundermann, Erin E EE; Maki, Pauline M PM; Bishop, Jeffrey R JR
Publication Date: 2010-07

Variant appearance in text: rs2347867
PubMed Link: 20616674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited variations in AR, ESR1, and ESR2 genes are not associated with prostate cancer aggressiveness or with efficacy of androgen deprivation therapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Sun, Tong T; Lee, Gwo-Shu Mary GS; Werner, Lillian L; Pomerantz, Mark M; Oh, William K WK; Kantoff, Philip W PW; Freedman, Matthew L ML
Publication Date: 2010-07

Variant appearance in text: rs2347867
PubMed Link: 20615892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic influences underlie comorbidity of migraine and endometriosis.

Genetic Epidemiology
Nyholt, Dale R DR; Gillespie, Nathan G NG; Merikangas, Kathleen R KR; Treloar, Susan A SA; Martin, Nicholas G NG; Montgomery, Grant W GW
Publication Date: 2009-02

Variant appearance in text: rs2347867
PubMed Link: 18636479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.

Plos One
Dahlgren, Andreas A; Lundmark, Per P; Axelsson, Tomas T; Lind, Lars L; Syvänen, Ann-Christine AC
Publication Date: 2008-03-19

Variant appearance in text: rs2347867
PubMed Link: 18350145
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.

Bmc Medical Genetics
Nilsson, Maria M; Dahlman, Ingrid I; Jiao, Hong H; Gustafsson, Jan-Ake JA; Arner, Peter P; Dahlman-Wright, Karin K
Publication Date: 2007-12-04

Variant appearance in text: rs2347867
PubMed Link: 18053221
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-73.pdf
View BVdb publication page