EPHX1 c.364+114G>C

Variant ID: 1-226019774-G-C

NM_001136018.2(EPHX1):c.364+114G>C

This variant was identified in 23 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2260863
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: EPHX1: 364+114G>C; rs2260863
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: EPHX1: 364+114G>C; rs2260863
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2260863
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Establishment of a Han Chinese-specific pharmacogenetic-guided warfarin dosing algorithm.

Medicine
Pei, Lin L; Tian, Xiaoyi X; Long, Yan Y; Nan, Wenhui W; Jia, Mei M; Qiao, Rui R; Zhang, Jie J
Publication Date: 2018-09

Variant appearance in text: rs2260863
PubMed Link: 30200121
Variant Present in the following documents:
  • medi-97-e12178.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2260863
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2260863
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement.

Medicine
Liu, Rui R; Cao, Jian J; Zhang, Qian Q; Shi, Xin-Miao XM; Pan, Xiao-Dong XD; Dong, Ran R
Publication Date: 2017-01

Variant appearance in text: rs2260863
PubMed Link: 28079798
Variant Present in the following documents:
  • Main text
  • medi-96-e5658.pdf
View BVdb publication page



Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population.

Human Genomics
An, Li L; Lin, Yingxiang Y; Yang, Ting T; Hua, Lin L
Publication Date: 2016-05-18

Variant appearance in text: rs2260863
PubMed Link: 27193053
Variant Present in the following documents:
  • Main text
  • 40246_2016_Article_76.pdf
View BVdb publication page



A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics.

Plos One
Duconge, Jorge J; Ramos, Alga S AS; Claudio-Campos, Karla K; Rivera-Miranda, Giselle G; Bermúdez-Bosch, Luis L; Renta, Jessicca Y JY; Cadilla, Carmen L CL; Cruz, Iadelisse I; Feliu, Juan F JF; Vergara, Cunegundo C; Ruaño, Gualberto G
Publication Date: 2016

Variant appearance in text: rs2260863
PubMed Link: 26745506
Variant Present in the following documents:
  • pone.0145480.s001.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2260863
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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An Improved Version of Logistic Bayesian LASSO for Detecting Rare Haplotype-Environment Interactions with Application to Lung Cancer.

Cancer Informatics
Zhang, Yuan Y; Biswas, Swati S
Publication Date: 2015

Variant appearance in text: rs2260863
PubMed Link: 25733797
Variant Present in the following documents:
  • Main text
  • cin-suppl.2-2015-011.pdf
View BVdb publication page



Genetic variants in antioxidant genes are associated with diisocyanate-induced asthma.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology
Yucesoy, Berran B; Johnson, Victor J VJ; Lummus, Zana L ZL; Kissling, Grace E GE; Fluharty, Kara K; Gautrin, Denyse D; Malo, Jean-Luc JL; Cartier, André A; Boulet, Louis-Philippe LP; Sastre, Joaquin J; Quirce, Santiago S; Germolec, Dori R DR; Tarlo, Susan M SM; Cruz, Maria-Jesus MJ; Munoz, Xavier X; Luster, Michael I MI; Bernstein, David I DI
Publication Date: 2012-09

Variant appearance in text: rs2260863
PubMed Link: 22610343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of interactions of cigarette smoking with NAT2 polymorphisms on rheumatoid arthritis risk in African Americans.

Arthritis And Rheumatism
Mikuls, Ted R TR; Levan, Tricia T; Gould, Karen A KA; Yu, Fang F; Thiele, Geoffrey M GM; Bynote, Kimberly K KK; Conn, Doyt D; Jonas, Beth L BL; Callahan, Leigh F LF; Smith, Edwin E; Brasington, Richard R; Moreland, Larry W LW; Reynolds, Richard R; Gaffo, Angelo A; Bridges, S Louis SL
Publication Date: 2012-03

Variant appearance in text: rs2260863
PubMed Link: 21989592
Variant Present in the following documents:
  • Main text
View BVdb publication page



New genetic variant that might improve warfarin dose prediction in African Americans.

British Journal Of Clinical Pharmacology
Schelleman, Hedi H; Brensinger, Colleen M CM; Chen, Jinbo J; Finkelman, Brian S BS; Rieder, Mark J MJ; Kimmel, Stephen E SE
Publication Date: 2010-09

Variant appearance in text: rs2260863
PubMed Link: 20716240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

Plos One
Rotunno, Melissa M; Yu, Kai K; Lubin, Jay H JH; Consonni, Dario D; Pesatori, Angela C AC; Goldstein, Alisa M AM; Goldin, Lynn R LR; Wacholder, Sholom S; Welch, Robert R; Burdette, Laurie L; Chanock, Stephen J SJ; Bertazzi, Pier Alberto PA; Tucker, Margaret A MA; Caporaso, Neil E NE; Chatterjee, Nilanjan N; Bergen, Andrew W AW; Landi, Maria Teresa MT
Publication Date: 2009-05-21

Variant appearance in text: rs2260863
PubMed Link: 19479063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Carcinogenesis
Figueroa, Jonine D JD; Malats, Núria N; García-Closas, Montserrat M; Real, Francisco X FX; Silverman, Debra D; Kogevinas, Manolis M; Chanock, Stephen S; Welch, Robert R; Dosemeci, Mustafa M; Lan, Qing Q; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Castaño-Vinyals, Gemma G; Rothman, Nathaniel N
Publication Date: 2008-10

Variant appearance in text: rs2260863
PubMed Link: 18632753
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs2260863
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page



IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.

American Journal Of Respiratory Cell And Molecular Biology
Demeo, Dawn L DL; Campbell, Edward J EJ; Barker, Alan F AF; Brantly, Mark L ML; Eden, Edward E; McElvaney, N Gerard NG; Rennard, Stephen I SI; Sandhaus, Robert A RA; Stocks, James M JM; Stoller, James K JK; Strange, Charlie C; Turino, Gerard G; Silverman, Edwin K EK
Publication Date: 2008-01

Variant appearance in text: rs2260863
PubMed Link: 17690329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of emphysema distribution in the national emphysema treatment trial.

American Journal Of Respiratory And Critical Care Medicine
DeMeo, Dawn L DL; Hersh, Craig P CP; Hoffman, Eric A EA; Litonjua, Augusto A AA; Lazarus, Ross R; Sparrow, David D; Benditt, Joshua O JO; Criner, Gerard G; Make, Barry B; Martinez, Fernando J FJ; Scanlon, Paul D PD; Sciurba, Frank C FC; Utz, James P JP; Reilly, John J JJ; Silverman, Edwin K EK
Publication Date: 2007-07-01

Variant appearance in text: rs2260863
PubMed Link: 17363767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P
Publication Date: 2007-03

Variant appearance in text: rs2260863
PubMed Link: 17048007
Variant Present in the following documents:
View BVdb publication page



Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.

American Journal Of Respiratory And Critical Care Medicine
Hersh, Craig P CP; Demeo, Dawn L DL; Lazarus, Ross R; Celedón, Juan C JC; Raby, Benjamin A BA; Benditt, Joshua O JO; Criner, Gerard G; Make, Barry B; Martinez, Fernando J FJ; Scanlon, Paul D PD; Sciurba, Frank C FC; Utz, James P JP; Reilly, John J JJ; Silverman, Edwin K EK
Publication Date: 2006-05-01

Variant appearance in text: rs2260863
PubMed Link: 16456143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.

American Journal Of Respiratory Cell And Molecular Biology
Hersh, Craig P CP; Demeo, Dawn L DL; Lange, Christoph C; Litonjua, Augusto A AA; Reilly, John J JJ; Kwiatkowski, David D; Laird, Nan N; Sylvia, Jody S JS; Sparrow, David D; Speizer, Frank E FE; Weiss, Scott T ST; Silverman, Edwin K EK
Publication Date: 2005-07

Variant appearance in text: rs2260863
PubMed Link: 15817713
Variant Present in the following documents:
  • Main text
View BVdb publication page