ESR1 c.1369+66A>G

Variant ID: 6-152382325-A-G

NM_000125.3(ESR1):c.1369+66A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Personalized prediction of the secondary oocytes number after ovarian stimulation: A machine learning model based on clinical and genetic data.

Plos Computational Biology
Zieliński, Krystian K; Pukszta, Sebastian S; Mickiewicz, Małgorzata M; Kotlarz, Marta M; Wygocki, Piotr P; Zieleń, Marcin M; Drzewiecka, Dominika D; Drzyzga, Damian D; Kloska, Anna A; Jakóbkiewicz-Banecka, Joanna J
Publication Date: 2023-04

Variant appearance in text: rs2273207
PubMed Link: 37104276
Variant Present in the following documents:
  • Main text
  • pcbi.1011020.pdf
View BVdb publication page



Highly Variable Expression of ESR1 Splice Variants in Human Liver: Implication in the Liver Gene Expression Regulation and Inter-Person Variability in Drug Metabolism and Liver Related Diseases.

Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research
Sun, J W JW; Collins, J M JM; Ling, D D; Wang, D D
Publication Date: 2019

Variant appearance in text: rs2273207
PubMed Link: 32457812
Variant Present in the following documents:
  • Main text
  • nihms-1067622.pdf
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: ESR1: 1369+66A>G
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



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: ESR1: 1369+66A>G; rs2273207
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).

Human Molecular Genetics
Ahn, Jiyoung J; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Pfeiffer, Ruth R; Albanes, Demetrius D; Andriole, Gerald L GL; Ardanaz, Eva E; Boeing, Heiner H; Bueno-de-Mesquita, Bas B; Chanock, Stephen J SJ; Clavel-Chapelon, Françoise F; Diver, W Ryan WR; Feigelson, Heather Spencer HS; Gaziano, J Michael JM; Giovannucci, Edward E; Haiman, Christopher A CA; Henderson, Brian E BE; Hoover, Robert N RN; Kolonel, Laurence N LN; Kraft, Peter P; Ma, Jing J; Le Marchand, Loïc L; Overvad, Kim K; Palli, Domenico D; Stattin, Pär P; Stampfer, Meir M; Stram, Daniel O DO; Thomas, Gilles G; Thun, Michael J MJ; Travis, Ruth C RC; Trichopoulos, Dimitrios D; Virtamo, Jarmo J; Weinstein, Stephanie J SJ; Yeager, Meredith M; Kaaks, Rudolf R; Hunter, David J DJ; Hayes, Richard B RB
Publication Date: 2009-10-01

Variant appearance in text: rs2273207
PubMed Link: 19574343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

Human Molecular Genetics
Weickert, Cynthia Shannon CS; Miranda-Angulo, Ana L AL; Wong, Jenny J; Perlman, William R WR; Ward, Sarah E SE; Radhakrishna, Vakkalanka V; Straub, Richard E RE; Weinberger, Daniel R DR; Kleinman, Joel E JE
Publication Date: 2008-08-01

Variant appearance in text: rs2273207
PubMed Link: 18424448
Variant Present in the following documents:
  • Main text
  • ddn130.pdf
View BVdb publication page



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: rs2273207
PubMed Link: 18305958
Variant Present in the following documents:
  • Main text
View BVdb publication page