ESR1 c.1096+13098C>T

Variant ID: 6-152278741-C-T

NM_000125.3(ESR1):c.1096+13098C>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The Association of Estrogen Receptor-β Gene Variation With Salt-Sensitive Blood Pressure.

The Journal Of Clinical Endocrinology And Metabolism
Manosroi, Worapaka W; Tan, Jia Wei JW; Rariy, Chevon M CM; Sun, Bei B; Goodarzi, Mark O MO; Saxena, Aditi R AR; Williams, Jonathan S JS; Pojoga, Luminita H LH; Lasky-Su, Jessica J; Cui, Jinrui J; Guo, Xiuqing X; Taylor, Kent D KD; Chen, Yii-Der I YI; Xiang, Anny H AH; Hsueh, Willa A WA; Raffel, Leslie J LJ; Buchanan, Thomas A TA; Rotter, Jerome I JI; Williams, Gordon H GH; Seely, Ellen W EW
Publication Date: 2017-11-01

Variant appearance in text: rs3020317
PubMed Link: 28938457
Variant Present in the following documents:
  • Main text
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Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.

American Journal Of Respiratory And Critical Care Medicine
Roberts, Kari E KE; Fallon, Michael B MB; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Peter, Inga I; Tighiouart, Hocine H; Knowles, James A JA; Rabinowitz, Daniel D; Benza, Raymond L RL; Badesch, David B DB; Taichman, Darren B DB; Horn, Evelyn M EM; Zacks, Steven S; Kaplowitz, Neil N; Kawut, Steven M SM; ,
Publication Date: 2009-05-01

Variant appearance in text: rs3020317
PubMed Link: 19218192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of ESR1 gene tagging SNPs with breast cancer risk.

Human Molecular Genetics
Dunning, Alison M AM; Healey, Catherine S CS; Baynes, Caroline C; Maia, Ana-Teresa AT; Scollen, Serena S; Vega, Ana A; Rodríguez, Raquel R; Barbosa-Morais, Nuno L NL; Ponder, Bruce A J BA; , ; Low, Yen-Ling YL; Bingham, Sheila S; , ; Haiman, Christopher A CA; Le Marchand, Loic L; , ; Broeks, Annegien A; Schmidt, Marjanka K MK; , ; Hopper, John J; Southey, Melissa M; , ; Beckmann, Matthias W MW; Fasching, Peter A PA; , ; Peto, Julian J; Johnson, Nichola N; , ; Bojesen, Stig E SE; Nordestgaard, Børge B; , ; Milne, Roger L RL; Benitez, Javier J; , ; Hamann, Ute U; Ko, Yon Y; , ; Schmutzler, Rita K RK; Burwinkel, Barbara B; , ; Schürmann, Peter P; Dörk, Thilo T; , ; Heikkinen, Tuomas T; Nevanlinna, Heli H; , ; Lindblom, Annika A; Margolin, Sara S; , ; Mannermaa, Arto A; Kosma, Veli-Matti VM; , ; Chen, Xiaoqing X; Spurdle, Amanda A; , ; Change-Claude, Jenny J; Flesch-Janys, Dieter D; , ; Couch, Fergus J FJ; Olson, Janet E JE; , ; Severi, Gianluca G; Baglietto, Laura L; , ; Børresen-Dale, Anne-Lise AL; Kristensen, Vessela V; , ; Hunter, David J DJ; Hankinson, Susan E SE; , ; Devilee, Peter P; Vreeswijk, Maaike M; , ; Lissowska, Jolanta J; Brinton, Louise L; , ; Liu, Jianjun J; Hall, Per P; , ; Kang, Daehee D; Yoo, Keun-Young KY; , ; Shen, Chen-Yang CY; Yu, Jyh-Cherng JC; , ; Anton-Culver, Hoda H; Ziogoas, Argyrios A; , ; Sigurdson, Alice A; Struewing, Jeff J; , ; Easton, Douglas F DF; Garcia-Closas, Montserrat M; Humphreys, Manjeet K MK; Morrison, Jonathan J; Pharoah, Paul D P PD; Pooley, Karen A KA; Chenevix-Trench, Georgia G; ,
Publication Date: 2009-03-15

Variant appearance in text: rs3020317
PubMed Link: 19126777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Mavaddat, Nasim N; Dunning, Alison M AM; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D PD
Publication Date: 2009-01

Variant appearance in text: rs3020317
PubMed Link: 19124506
Variant Present in the following documents:
  • Main text
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Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

Human Genetics
Keene, Keith L KL; Mychaleckyj, Josyf C JC; Smith, Shelly G SG; Leak, Tennille S TS; Perlegas, Peter S PS; Langefeld, Carl D CD; Herrington, David M DM; Freedman, Barry I BI; Rich, Stephen S SS; Bowden, Donald W DW; Sale, Michèle M MM
Publication Date: 2008-05

Variant appearance in text: rs3020317
PubMed Link: 18305958
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: rs3020317
PubMed Link: 18053221
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-73.pdf
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Risk for premenstrual dysphoric disorder is associated with genetic variation in ESR1, the estrogen receptor alpha gene.

Biological Psychiatry
Huo, Liang L; Straub, Richard E RE; Roca, Catherine C; Schmidt, Peter J PJ; Shi, Kai K; Vakkalanka, Radhakrishna R; Weinberger, Daniel R DR; Rubinow, David R DR
Publication Date: 2007-10-15

Variant appearance in text: rs3020317
PubMed Link: 17599809
Variant Present in the following documents:
  • Main text
View BVdb publication page