ESR1 c.1096+6755G>A

Variant ID: 6-152272398-G-A

NM_000125.3(ESR1):c.1096+6755G>A

This variant was identified in 13 publications

View GRCh38 version.




Publications:


ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.

American Journal Of Orthodontics And Dentofacial Orthopedics : Official Publication Of The American Association Of Orthodontists, Its Constituent Societies, And The American Board Of Orthodontics
Chung, Kay K; Richards, Tabitha T; Nicot, Romain R; Vieira, Alexandre R AR; Cruz, Christiane V CV; Raoul, Gwénaël G; Ferri, Joel J; Sciote, James J JJ
Publication Date: 2017-11

Variant appearance in text: rs3020377
PubMed Link: 29103441
Variant Present in the following documents:
  • Main text
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: rs3020377
PubMed Link: 28705582
Variant Present in the following documents:
  • Main text
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ESR1 and PGR polymorphisms are associated with estrogen and progesterone receptor expression in breast tumors.

Physiological Genomics
Hertz, Daniel L DL; Henry, N Lynn NL; Kidwell, Kelley M KM; Thomas, Dafydd D; Goddard, Audrey A; Azzouz, Faouzi F; Speth, Kelly K; Li, Lang L; Banerjee, Mousumi M; Thibert, Jacklyn N JN; Kleer, Celina G CG; Stearns, Vered V; Hayes, Daniel F DF; Skaar, Todd C TC; Rae, James M JM
Publication Date: 2016-09-01

Variant appearance in text: rs3020377
PubMed Link: 27542969
Variant Present in the following documents:
  • Main text
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ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.

Journal Of Cranio-Maxillo-Facial Surgery : Official Publication Of The European Association For Cranio-Maxillo-Facial Surgery
Nicot, Romain R; Vieira, Alexandre R AR; Raoul, Gwénaël G; Delmotte, Constance C; Duhamel, Alain A; Ferri, Joël J; Sciote, James J JJ
Publication Date: 2016-09

Variant appearance in text: rs3020377
PubMed Link: 27519661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain.

Pain
Smith, Shad B SB; Reenilä, Ilkka I; Männistö, Pekka T PT; Slade, Gary D GD; Maixner, William W; Diatchenko, Luda L; Nackley, Andrea G AG
Publication Date: 2014-11

Variant appearance in text: rs3020377
PubMed Link: 25218601
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: rs3020377
PubMed Link: 24732579
Variant Present in the following documents:
  • Main text
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Novel Integrative Genomics Approach for Associating GWAS Information with Intrinsic Subtypes of Breast Cancer.

Cancer Informatics
Hicks, Chindo C; Koganti, Tejaswi T; Brown, Alexandra S AS; Monico, Jesus J; Backus, Kandis K; Miele, Lucio L
Publication Date: 2013

Variant appearance in text: rs3020377
PubMed Link: 23761956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors influencing bone mineral content in a black South African population.

Journal Of Bone And Mineral Metabolism
May, Andrew A; Pettifor, John M JM; Norris, Shane A SA; Ramsay, Michèle M; Lombard, Zané Z
Publication Date: 2013-11

Variant appearance in text: rs3020377
PubMed Link: 23475190
Variant Present in the following documents:
  • Main text
  • 774_2013_Article_431.pdf
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Preliminary genetic imaging study of the association between estrogen receptor-α gene polymorphisms and harsh human maternal parenting.

Neuroscience Letters
Lahey, Benjamin B BB; Michalska, Kalina J KJ; Liu, Chunyu C; Chen, Qi Q; Hipwell, Alison E AE; Chronis-Tuscano, Andrea A; Waldman, Irwin D ID; Decety, Jean J
Publication Date: 2012-09-06

Variant appearance in text: rs3020377
PubMed Link: 22819972
Variant Present in the following documents:
  • Main text
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Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.

Human Molecular Genetics
Canzian, Federico F; Cox, David G DG; Setiawan, V Wendy VW; Stram, Daniel O DO; Ziegler, Regina G RG; Dossus, Laure L; Beckmann, Lars L; Blanché, Hélène H; Barricarte, Aurelio A; Berg, Christine D CD; Bingham, Sheila S; Buring, Julie J; Buys, Saundra S SS; Calle, Eugenia E EE; Chanock, Stephen J SJ; Clavel-Chapelon, Françoise F; DeLancey, John Oliver L JO; Diver, W Ryan WR; Dorronsoro, Miren M; Haiman, Christopher A CA; Hallmans, Göran G; Hankinson, Susan E SE; Hunter, David J DJ; Hüsing, Anika A; Isaacs, Claudine C; Khaw, Kay-Tee KT; Kolonel, Laurence N LN; Kraft, Peter P; Le Marchand, Loïc L; Lund, Eiliv E; Overvad, Kim K; Panico, Salvatore S; Peeters, Petra H M PH; Pollak, Michael M; Thun, Michael J MJ; Tjønneland, Anne A; Trichopoulos, Dimitrios D; Tumino, Rosario R; Yeager, Meredith M; Hoover, Robert N RN; Riboli, Elio E; Thomas, Gilles G; Henderson, Brian E BE; Kaaks, Rudolf R; Feigelson, Heather Spencer HS
Publication Date: 2010-10-01

Variant appearance in text: rs3020377
PubMed Link: 20634197
Variant Present in the following documents:
  • Main text
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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: rs3020377
PubMed Link: 19124506
Variant Present in the following documents:
  • Main text
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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: rs3020377
PubMed Link: 18350145
Variant Present in the following documents:
  • Main text
  • pone.0001807.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: rs3020377
PubMed Link: 17599809
Variant Present in the following documents:
  • Main text
View BVdb publication page