TMEM97 c.127-2805A>C

Variant ID: 17-26649724-A-C

NM_014573.2(TMEM97):c.127-2805A>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification.

Statistics In Medicine
Beesley, Lauren J LJ; Mukherjee, Bhramar B
Publication Date: 2022-12-10

Variant appearance in text: rs11080055
PubMed Link: 36131394
Variant Present in the following documents:
  • SIM-41-5501.pdf
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A proteogenomic signature of age-related macular degeneration in blood.

Nature Communications
Emilsson, Valur V; Gudmundsson, Elias F EF; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Twarog, Michael M; Gudmundsdottir, Valborg V; Li, Zhiguang Z; Finkel, Nancy N; Poor, Stephen S; Liu, Xin X; Esterberg, Robert R; Zhang, Yiyun Y; Jose, Sandra S; Huang, Chia-Ling CL; Liao, Sha-Mei SM; Loureiro, Joseph J; Zhang, Qin Q; Grosskreutz, Cynthia L CL; Nguyen, Andrew A AA; Huang, Qian Q; Leehy, Barrett B; Pitts, Rebecca R; Aspelund, Thor T; Lamb, John R JR; Jonasson, Fridbert F; Launer, Lenore J LJ; Cotch, Mary Frances MF; Jennings, Lori L LL; Gudnason, Vilmundur V; Walshe, Tony E TE
Publication Date: 2022-06-13

Variant appearance in text: rs11080055
PubMed Link: 35697682
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31085.pdf
  • 41467_2022_31085_MOESM1_ESM.pdf
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Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases
Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2022-11-01

Variant appearance in text: rs11080055
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648-supplement-Supplementary_file.pdf
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Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Genes & Diseases
Deng, Yanhui Y; Qiao, Lifeng L; Du, Mingyan M; Qu, Chao C; Wan, Ling L; Li, Jie J; Huang, Lulin L
Publication Date: 2022-01

Variant appearance in text: rs11080055
PubMed Link: 35005108
Variant Present in the following documents:
  • Main text
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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25

Variant appearance in text: rs11080055
PubMed Link: 34945728
Variant Present in the following documents:
  • Main text
  • jpm-11-01256.pdf
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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25

Variant appearance in text: rs11080055
PubMed Link: 34945728
Variant Present in the following documents:
  • Main text
  • jpm-11-01256.pdf
View BVdb publication page



Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology
de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB
Publication Date: 2021-11-01

Variant appearance in text: rs11080055
PubMed Link: 34647987
Variant Present in the following documents:
  • jamaophthalmol-e214102-s001.pdf
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Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups.

Bmc Ophthalmology
Shin, Hyun-Tae HT; Yoon, Byung Woo BW; Seo, Je Hyun JH
Publication Date: 2021-02-22

Variant appearance in text: rs11080055
PubMed Link: 33618707
Variant Present in the following documents:
  • Main text
  • 12886_2021_Article_1830.pdf
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Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology.

Investigative Ophthalmology & Visual Science
Biasella, Fabiola F; Plössl, Karolina K; Karl, Claudia C; Weber, Bernhard H F BHF; Friedrich, Ulrike U
Publication Date: 2020-12-01

Variant appearance in text: rs11080055
PubMed Link: 33259607
Variant Present in the following documents:
  • Main text
  • iovs-61-14-2.pdf
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Baseline characteristics and age-related macular degeneration in participants of the "ASPirin in Reducing Events in the Elderly" (ASPREE)-AMD trial.

Contemporary Clinical Trials Communications
Robman, Liubov D LD; Phuong Thao, Le Thi LT; Guymer, Robyn H RH; Wolfe, Rory R; Woods, Robyn L RL; Hodgson, Lauren Ab LA; Phung, James J; Makeyeva, Galina A GA; Le-Pham, Y-Anh YA; Orchard, Suzanne G SG; Suleiman, Jewhara J; Maguire, Emily E; Trevaks, Ruth E RE; Ward, Stephanie A SA; Riaz, Moeen M; Lacaze, Paul P; Storey, Elsdon E; Abhayaratna, Walter P WP; Nelson, Mark R MR; Ernst, Michael E ME; Reid, Christopher M CM; McNeil, John J JJ; ,
Publication Date: 2020-12

Variant appearance in text: rs11080055
PubMed Link: 33210016
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of plasma trace element levels with neovascular age-related macular degeneration.

Experimental Eye Research
Heesterbeek, Thomas J TJ; Rouhi-Parkouhi, Mansour M; Church, Stephanie J SJ; Lechanteur, Yara T YT; Lorés-Motta, Laura L; Kouvatsos, Nikolaos N; Clark, Simon J SJ; Bishop, Paul N PN; Hoyng, Carel B CB; den Hollander, Anneke I AI; Unwin, Richard D RD; Day, Anthony J AJ
Publication Date: 2020-12

Variant appearance in text: rs11080055
PubMed Link: 33098886
Variant Present in the following documents:
  • Main text
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Risk factors for progression of age-related macular degeneration.

Ophthalmic & Physiological Optics : The Journal Of The British College Of Ophthalmic Opticians (Optometrists)
Heesterbeek, Thomas J TJ; Lorés-Motta, Laura L; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; den Hollander, Anneke I AI
Publication Date: 2020-03

Variant appearance in text: rs11080055
PubMed Link: 32100327
Variant Present in the following documents:
  • Main text
  • OPO-40-140.pdf
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Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Nature Genetics
Ratnapriya, Rinki R; Sosina, Olukayode A OA; Starostik, Margaret R MR; Kwicklis, Madeline M; Kapphahn, Rebecca J RJ; Fritsche, Lars G LG; Walton, Ashley A; Arvanitis, Marios M; Gieser, Linn L; Pietraszkiewicz, Alexandra A; Montezuma, Sandra R SR; Chew, Emily Y EY; Battle, Alexis A; Abecasis, Gonçalo R GR; Ferrington, Deborah A DA; Chatterjee, Nilanjan N; Swaroop, Anand A
Publication Date: 2019-04

Variant appearance in text: rs11080055
PubMed Link: 30742112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis of disease progression in age-related macular degeneration.

Human Molecular Genetics
Yan, Qi Q; Ding, Ying Y; Liu, Yi Y; Sun, Tao T; Fritsche, Lars G LG; Clemons, Traci T; Ratnapriya, Rinki R; Klein, Michael L ML; Cook, Richard J RJ; Liu, Yu Y; Fan, Ruzong R; Wei, Lai L; Abecasis, Gonçalo R GR; Swaroop, Anand A; Chew, Emily Y EY; , ; Weeks, Daniel E DE; Chen, Wei W
Publication Date: 2018-03-01

Variant appearance in text: rs11080055
PubMed Link: 29346644
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Nature Genetics
Fritsche, Lars G LG; Igl, Wilmar W; Bailey, Jessica N Cooke JN; Grassmann, Felix F; Sengupta, Sebanti S; Bragg-Gresham, Jennifer L JL; Burdon, Kathryn P KP; Hebbring, Scott J SJ; Wen, Cindy C; Gorski, Mathias M; Kim, Ivana K IK; Cho, David D; Zack, Donald D; Souied, Eric E; Scholl, Hendrik P N HP; Bala, Elisa E; Lee, Kristine E KE; Hunter, David J DJ; Sardell, Rebecca J RJ; Mitchell, Paul P; Merriam, Joanna E JE; Cipriani, Valentina V; Hoffman, Joshua D JD; Schick, Tina T; Lechanteur, Yara T E YT; Guymer, Robyn H RH; Johnson, Matthew P MP; Jiang, Yingda Y; Stanton, Chloe M CM; Buitendijk, Gabriëlle H S GH; Zhan, Xiaowei X; Kwong, Alan M AM; Boleda, Alexis A; Brooks, Matthew M; Gieser, Linn L; Ratnapriya, Rinki R; Branham, Kari E KE; Foerster, Johanna R JR; Heckenlively, John R JR; Othman, Mohammad I MI; Vote, Brendan J BJ; Liang, Helena Hai HH; Souzeau, Emmanuelle E; McAllister, Ian L IL; Isaacs, Timothy T; Hall, Janette J; Lake, Stewart S; Mackey, David A DA; Constable, Ian J IJ; Craig, Jamie E JE; Kitchner, Terrie E TE; Yang, Zhenglin Z; Su, Zhiguang Z; Luo, Hongrong H; Chen, Daniel D; Ouyang, Hong H; Flagg, Ken K; Lin, Danni D; Mao, Guanping G; Ferreyra, Henry H; Stark, Klaus K; von Strachwitz, Claudia N CN; Wolf, Armin A; Brandl, Caroline C; Rudolph, Guenther G; Olden, Matthias M; Morrison, Margaux A MA; Morgan, Denise J DJ; Schu, Matthew M; Ahn, Jeeyun J; Silvestri, Giuliana G; Tsironi, Evangelia E EE; Park, Kyu Hyung KH; Farrer, Lindsay A LA; Orlin, Anton A; Brucker, Alexander A; Li, Mingyao M; Curcio, Christine A CA; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Audo, Isabelle I; Benchaboune, Mustapha M; Cree, Angela J AJ; Rennie, Christina A CA; Goverdhan, Srinivas V SV; Grunin, Michelle M; Hagbi-Levi, Shira S; Campochiaro, Peter P; Katsanis, Nicholas N; Holz, Frank G FG; Blond, Frédéric F; Blanché, Hélène H; Deleuze, Jean-François JF; Igo, Robert P RP; Truitt, Barbara B; Peachey, Neal S NS; Meuer, Stacy M SM; Myers, Chelsea E CE; Moore, Emily L EL; Klein, Ronald R; Hauser, Michael A MA; Postel, Eric A EA; Courtenay, Monique D MD; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Scott, William K WK; Liew, Gerald G; Tan, Ava G AG; Gopinath, Bamini B; Merriam, John C JC; Smith, R Theodore RT; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; McGrath, J Allie JA; Laux, Reneé R; Brantley, Milam A MA; Agarwal, Anita A; Ersoy, Lebriz L; Caramoy, Albert A; Langmann, Thomas T; Saksens, Nicole T M NT; de Jong, Eiko K EK; Hoyng, Carel B CB; Cain, Melinda S MS; Richardson, Andrea J AJ; Martin, Tammy M TM; Blangero, John J; Weeks, Daniel E DE; Dhillon, Bal B; van Duijn, Cornelia M CM; Doheny, Kimberly F KF; Romm, Jane J; Klaver, Caroline C W CC; Hayward, Caroline C; Gorin, Michael B MB; Klein, Michael L ML; Baird, Paul N PN; den Hollander, Anneke I AI; Fauser, Sascha S; Yates, John R W JR; Allikmets, Rando R; Wang, Jie Jin JJ; Schaumberg, Debra A DA; Klein, Barbara E K BE; Hagstrom, Stephanie A SA; Chowers, Itay I; Lotery, Andrew J AJ; Léveillard, Thierry T; Zhang, Kang K; Brilliant, Murray H MH; Hewitt, Alex W AW; Swaroop, Anand A; Chew, Emily Y EY; Pericak-Vance, Margaret A MA; DeAngelis, Margaret M; Stambolian, Dwight D; Haines, Jonathan L JL; Iyengar, Sudha K SK; Weber, Bernhard H F BH; Abecasis, Gonçalo R GR; Heid, Iris M IM
Publication Date: 2016-02

Variant appearance in text: rs11080055
PubMed Link: 26691988
Variant Present in the following documents:
  • Main text
  • nihms733253.pdf
View BVdb publication page