STN1 c.743C>A ;(p.S248Y)

Variant ID: 10-105657316-G-T

NM_024928.4(STN1):c.743C>A;(p.S248Y)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Clinical characteristics and genetic analysis of a Chinese pedigree of type 2 diabetes complicated with interstitial lung disease.

Frontiers In Endocrinology
Zhang, Qinghua Q; Wang, Yan Y; Tian, Chang C; Yu, Jinyan J; Li, Yanlei Y; Yang, Junling J
Publication Date: 2022

Variant appearance in text: rs10786775
PubMed Link: 36733806
Variant Present in the following documents:
  • Main text
  • fendo-13-1050200.pdf
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Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes.

Cardiovascular Diabetology
Sanchez, Manuel M; Kannengiesser, Caroline C; Hoang, Sophie S; Potier, Louis L; Fumeron, Frédéric F; Venteclef, Nicolas N; Scheen, André A; Gautier, Jean-François JF; Hadjadj, Samy S; Marre, Michel M; Roussel, Ronan R; Mohammedi, Kamel K; Velho, Gilberto G
Publication Date: 2022-10-11

Variant appearance in text: rs10786775
PubMed Link: 36221106
Variant Present in the following documents:
  • Main text
  • 12933_2022_Article_1635.pdf
View BVdb publication page



Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.

Plos One
Protsenko, Ekaterina E; Rehkopf, David D; Prather, Aric A AA; Epel, Elissa E; Lin, Jue J
Publication Date: 2020

Variant appearance in text: rs10786775
PubMed Link: 33031470
Variant Present in the following documents:
  • Main text
  • pone.0240185.pdf
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs10786775
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of atrial fibrillation associated genes and functional non-coding variants.

Nature Communications
van Ouwerkerk, Antoinette F AF; Bosada, Fernanda M FM; van Duijvenboden, Karel K; Hill, Matthew C MC; Montefiori, Lindsey E LE; Scholman, Koen T KT; Liu, Jia J; de Vries, Antoine A F AAF; Boukens, Bastiaan J BJ; Ellinor, Patrick T PT; Goumans, Marie José T H MJTH; Efimov, Igor R IR; Nobrega, Marcelo A MA; Barnett, Phil P; Martin, James F JF; Christoffels, Vincent M VM
Publication Date: 2019-10-18

Variant appearance in text: rs10786775
PubMed Link: 31628324
Variant Present in the following documents:
  • 41467_2019_12721_MOESM2_ESM.pdf
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs10786775
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Association between TNIP1, MPHOSPH6 and ZNF208 genetic polymorphisms and the coronary artery disease risk in Chinese Han population.

Oncotarget
Song, Yanbin Y; Yan, Mengdan M; Li, Jing J; Li, Jingjie J; Jin, Tianbo T; Chen, Chao C
Publication Date: 2017-09-29

Variant appearance in text: rs10786775
PubMed Link: 29100383
Variant Present in the following documents:
  • Main text
  • oncotarget-08-77233.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: rs10786775
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

Nature Genetics
McKay, James D JD; Hung, Rayjean J RJ; Han, Younghun Y; Zong, Xuchen X; Carreras-Torres, Robert R; Christiani, David C DC; Caporaso, Neil E NE; Johansson, Mattias M; Xiao, Xiangjun X; Li, Yafang Y; Byun, Jinyoung J; Dunning, Alison A; Pooley, Karen A KA; Qian, David C DC; Ji, Xuemei X; Liu, Geoffrey G; Timofeeva, Maria N MN; Bojesen, Stig E SE; Wu, Xifeng X; Le Marchand, Loic L; Albanes, Demetrios D; Bickeböller, Heike H; Aldrich, Melinda C MC; Bush, William S WS; Tardon, Adonina A; Rennert, Gad G; Teare, M Dawn MD; Field, John K JK; Kiemeney, Lambertus A LA; Lazarus, Philip P; Haugen, Aage A; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Shen, Hongbing H; Hong, Yun-Chul YC; Yuan, Jian-Min JM; Bertazzi, Pier Alberto PA; Pesatori, Angela C AC; Ye, Yuanqing Y; Diao, Nancy N; Su, Li L; Zhang, Ruyang R; Brhane, Yonathan Y; Leighl, Natasha N; Johansen, Jakob S JS; Mellemgaard, Anders A; Saliba, Walid W; Haiman, Christopher A CA; Wilkens, Lynne R LR; Fernandez-Somoano, Ana A; Fernandez-Tardon, Guillermo G; van der Heijden, Henricus F M HFM; Kim, Jin Hee JH; Dai, Juncheng J; Hu, Zhibin Z; Davies, Michael P A MPA; Marcus, Michael W MW; Brunnström, Hans H; Manjer, Jonas J; Melander, Olle O; Muller, David C DC; Overvad, Kim K; Trichopoulou, Antonia A; Tumino, Rosario R; Doherty, Jennifer A JA; Barnett, Matt P MP; Chen, Chu C; Goodman, Gary E GE; Cox, Angela A; Taylor, Fiona F; Woll, Penella P; Brüske, Irene I; Wichmann, H-Erich HE; Manz, Judith J; Muley, Thomas R TR; Risch, Angela A; Rosenberger, Albert A; Grankvist, Kjell K; Johansson, Mikael M; Shepherd, Frances A FA; Tsao, Ming-Sound MS; Arnold, Susanne M SM; Haura, Eric B EB; Bolca, Ciprian C; Holcatova, Ivana I; Janout, Vladimir V; Kontic, Milica M; Lissowska, Jolanta J; Mukeria, Anush A; Ognjanovic, Simona S; Orlowski, Tadeusz M TM; Scelo, Ghislaine G; Swiatkowska, Beata B; Zaridze, David D; Bakke, Per P; Skaug, Vidar V; Zienolddiny, Shanbeh S; Duell, Eric J EJ; Butler, Lesley M LM; Koh, Woon-Puay WP; Gao, Yu-Tang YT; Houlston, Richard S RS; McLaughlin, John J; Stevens, Victoria L VL; Joubert, Philippe P; Lamontagne, Maxime M; Nickle, David C DC; Obeidat, Ma'en M; Timens, Wim W; Zhu, Bin B; Song, Lei L; Kachuri, Linda L; Artigas, María Soler MS; Tobin, Martin D MD; Wain, Louise V LV; , ; Rafnar, Thorunn T; Thorgeirsson, Thorgeir E TE; Reginsson, Gunnar W GW; Stefansson, Kari K; Hancock, Dana B DB; Bierut, Laura J LJ; Spitz, Margaret R MR; Gaddis, Nathan C NC; Lutz, Sharon M SM; Gu, Fangyi F; Johnson, Eric O EO; Kamal, Ahsan A; Pikielny, Claudio C; Zhu, Dakai D; Lindströem, Sara S; Jiang, Xia X; Tyndale, Rachel F RF; Chenevix-Trench, Georgia G; Beesley, Jonathan J; Bossé, Yohan Y; Chanock, Stephen S; Brennan, Paul P; Landi, Maria Teresa MT; Amos, Christopher I CI
Publication Date: 2017-07

Variant appearance in text: rs10786775
PubMed Link: 28604730
Variant Present in the following documents:
  • NIHMS875731-supplement-1.pdf
View BVdb publication page



Association between Genetic Variations Affecting Mean Telomere Length and the Prevalence of Hypertension and Coronary Heart Disease in Koreans.

Clinical Nutrition Research
Paik, Jean Kyung JK; Kang, Ryungwoo R; Cho, Yoonsu Y; Shin, Min-Jeong MJ
Publication Date: 2016-10

Variant appearance in text: rs10786775
PubMed Link: 27812514
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

Nature Communications
Chahal, Harvind S HS; Wu, Wenting W; Ransohoff, Katherine J KJ; Yang, Lingyao L; Hedlin, Haley H; Desai, Manisha M; Lin, Yuan Y; Dai, Hong-Ji HJ; Qureshi, Abrar A AA; Li, Wen-Qing WQ; Kraft, Peter P; Hinds, David A DA; Tang, Jean Y JY; Han, Jiali J; Sarin, Kavita Y KY
Publication Date: 2016-08-19

Variant appearance in text: rs10786775
PubMed Link: 27539887
Variant Present in the following documents:
  • ncomms12510-s1.pdf
View BVdb publication page



Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.

Clinical And Translational Medicine
Zhou, Yuling Y; Ning, Zhixin Z; Lee, Yvonne Y; Hambly, Brett D BD; McLachlan, Craig S CS
Publication Date: 2016-03

Variant appearance in text: rs10786775
PubMed Link: 26951191
Variant Present in the following documents:
  • Main text
  • 40169_2016_Article_89.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs10786775
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs10786775
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Levy, Daniel D; Neuhausen, Susan L SL; Hunt, Steven C SC; Kimura, Masayuki M; Hwang, Shih-Jen SJ; Chen, Wei W; Bis, Joshua C JC; Fitzpatrick, Annette L AL; Smith, Erin E; Johnson, Andrew D AD; Gardner, Jeffrey P JP; Srinivasan, Sathanur R SR; Schork, Nicholas N; Rotter, Jerome I JI; Herbig, Utz U; Psaty, Bruce M BM; Sastrasinh, Malinee M; Murray, Sarah S SS; Vasan, Ramachandran S RS; Province, Michael A MA; Glazer, Nicole L NL; Lu, Xiaobin X; Cao, Xiaojian X; Kronmal, Richard R; Mangino, Massimo M; Soranzo, Nicole N; Spector, Tim D TD; Berenson, Gerald S GS; Aviv, Abraham A
Publication Date: 2010-05-18

Variant appearance in text: rs10786775
PubMed Link: 20421499
Variant Present in the following documents:
  • Main text
View BVdb publication page