UQCC1 c.574-11640T>C

Variant ID: 20-33914208-A-G

NM_018244.4(UQCC1):c.574-11640T>C

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.

Hgg Advances
Young, Kristin L KL; Fisher, Virginia V; Deng, Xuan X; Brody, Jennifer A JA; Graff, Misa M; Lim, Elise E; Lin, Bridget M BM; Xu, Hanfei H; Amin, Najaf N; An, Ping P; Aslibekyan, Stella S; Fohner, Alison E AE; Hidalgo, Bertha B; Lenzini, Petra P; Kraaij, Robert R; Medina-Gomez, Carolina C; Prokić, Ivana I; Rivadeneira, Fernando F; Sitlani, Colleen C; Tao, Ran R; van Rooij, Jeroen J; Zhang, Di D; Broome, Jai G JG; Buth, Erin J EJ; Heavner, Benjamin D BD; Jain, Deepti D; Smith, Albert V AV; Barnes, Kathleen K; Boorgula, Meher Preethi MP; Chavan, Sameer S; Darbar, Dawood D; De Andrade, Mariza M; Guo, Xiuqing X; Haessler, Jeffrey J; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kardia, Sharon L R SLR; Kooperberg, Charles C; Kim, Wonji W; Mathias, Rasika A RA; McDonald, Merry-Lynn ML; Mitchell, Braxton D BD; Peyser, Patricia A PA; Regan, Elizabeth A EA; Redline, Susan S; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Smith, Jennifer A JA; Weiss, Scott S; Wiggins, Kerri L KL; Yanek, Lisa R LR; Arnett, Donna D; Heard-Costa, Nancy L NL; Leal, Suzanne S; Lin, Danyu D; McKnight, Barbara B; Province, Michael M; van Duijn, Cornelia M CM; North, Kari E KE; Cupples, L Adrienne LA; Liu, Ching-Ti CT
Publication Date: 2023-01-12

Variant appearance in text: rs6060373
PubMed Link: 36568030
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs6060373
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Joint disease-specificity at the regulatory base-pair level.

Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06

Variant appearance in text: rs6060373
PubMed Link: 34230488
Variant Present in the following documents:
  • 41467_2021_24345_MOESM1_ESM.pdf
View BVdb publication page



Joint disease-specificity at the regulatory base-pair level.

Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06

Variant appearance in text: rs6060373
PubMed Link: 34230488
Variant Present in the following documents:
  • 41467_2021_24345_MOESM1_ESM.pdf
View BVdb publication page



Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.

Aging
Xu, Renjie R; Zhang, Fei F; Lu, Junlan J; Wang, Kexin K; Pan, Peng P; Sun, Ye Y; Zhang, Yuxin Y
Publication Date: 2021-04-04

Variant appearance in text: rs6060373
PubMed Link: 33820867
Variant Present in the following documents:
  • Main text
  • aging-13-202815.pdf
View BVdb publication page



The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip.

Indian Journal Of Orthopaedics
Gumus, Evren E; Temiz, Ebru E; Sarikaya, Baran B; Yuksekdag, Ozgur O; Sipahioglu, Serkan S; Gonel, Ataman A
Publication Date: 2021-02

Variant appearance in text: rs6060373
PubMed Link: 33569111
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.

Calcified Tissue International
Wilkinson, J Mark JM; Zeggini, Eleftheria E
Publication Date: 2021-09

Variant appearance in text: rs6060373
PubMed Link: 32393986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.

Medicina (Kaunas, Lithuania)
Harsanyi, Stefan S; Zamborsky, Radoslav R; Krajciova, Lubica L; Kokavec, Milan M; Danisovic, Lubos L
Publication Date: 2020-03-31

Variant appearance in text: rs6060373
PubMed Link: 32244273
Variant Present in the following documents:
  • Main text
  • medicina-56-00153.pdf
View BVdb publication page



Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence.

Efort Open Reviews
Gkiatas, Ioannis I; Boptsi, Anastasia A; Tserga, Dimitra D; Gelalis, Ioannis I; Kosmas, Dimitrios D; Pakos, Emilios E
Publication Date: 2019-10

Variant appearance in text: rs6060373
PubMed Link: 31754465
Variant Present in the following documents:
  • Main text
  • eor-4-595.pdf
View BVdb publication page



Developmental Dysplasia of Hip: Perspectives in Genetic Screening.

Medical Sciences (Basel, Switzerland)
Zamborsky, Radoslav R; Kokavec, Milan M; Harsanyi, Stefan S; Attia, Doaa D; Danisovic, Lubos L
Publication Date: 2019-04-11

Variant appearance in text: rs6060373
PubMed Link: 30979092
Variant Present in the following documents:
  • Main text
  • medsci-07-00059.pdf
View BVdb publication page



"Mendelian Randomization" Approach in Economic Assessment of Health Conditions.

Frontiers In Public Health
Gupta, Vipin V; Sachdeva, Mohinder P MP; Walia, Gagandeep Kaur GK
Publication Date: 2019

Variant appearance in text: rs6060373
PubMed Link: 30778381
Variant Present in the following documents:
  • Main text
  • fpubh-07-00002.pdf
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs6060373
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Novel Genetic Variants Associated with Lumbar Spondylosis in Koreans : A Genome-Wide Association Study.

Journal Of Korean Neurosurgical Society
Kim, Hyun Ah HA; Heo, Seong Gu SG; Park, Ji Wan JW; Jung, Young Ok YO
Publication Date: 2018-01

Variant appearance in text: rs6060373
PubMed Link: 29354237
Variant Present in the following documents:
  • Main text
  • jkns-61-1-66.pdf
View BVdb publication page



Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.

Nature Genetics
Capellini, Terence D TD; Chen, Hao H; Cao, Jiaxue J; Doxey, Andrew C AC; Kiapour, Ata M AM; Schoor, Michael M; Kingsley, David M DM
Publication Date: 2017-08

Variant appearance in text: rs6060373
PubMed Link: 28671685
Variant Present in the following documents:
  • Main text
  • NIHMS884460-supplement-2.pdf
  • nihms-884460.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs6060373
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-9.pdf
View BVdb publication page



A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.

Plos One
Sun, Ye Y; Wang, Cheng C; Hao, Zheng Z; Dai, Jin J; Chen, Dongyang D; Xu, Zhihong Z; Shi, Dongquan D; Mao, Ping P; Teng, Huajian H; Gao, Xiang X; Hu, Zhibin Z; Shen, Hongbing H; Jiang, Qing Q
Publication Date: 2015

Variant appearance in text: rs6060373
PubMed Link: 25848760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Child height, health and human capital: Evidence using genetic markers.

European Economic Review
von Hinke Kessler Scholder, Stephanie S; Davey Smith, George G; Lawlor, Debbie A DA; Propper, Carol C; Windmeijer, Frank F
Publication Date: 2013-01

Variant appearance in text: rs6060373
PubMed Link: 25673883
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide association study identified UQCC locus for spine bone size in humans.

Bone
Deng, Fei-Yan FY; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Liu, Yong-Jun YJ; Liu, Yao-Zhong YZ; Shen, Hui H; Tian, Qing Q; Li, Jian J; Deng, Hong-Wen HW
Publication Date: 2013-03

Variant appearance in text: rs6060373
PubMed Link: 23207799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extent of height variability explained by known height-associated genetic variants in an isolated population of the Adriatic coast of Croatia.

Plos One
Zhang, Ge G; Karns, Rebekah R; Sun, Guangyun G; Indugula, Subba Rao SR; Cheng, Hong H; Havas-Augustin, Dubravka D; Novokmet, Natalija N; Rudan, Dusko D; Durakovic, Zijad Z; Missoni, Sasa S; Chakraborty, Ranajit R; Rudan, Pavao P; Deka, Ranjan R
Publication Date: 2011

Variant appearance in text: rs6060373
PubMed Link: 22216288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics
Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD
Publication Date: 2011-05

Variant appearance in text: rs6060373
PubMed Link: 21637794
Variant Present in the following documents:
  • Main text
  • pgen.1002078.pdf
View BVdb publication page



Genetic contributions to the association between adult height and testicular germ cell tumors.

International Journal Of Epidemiology
Cook, Michael B MB; Chia, Victoria M VM; Berndt, Sonja I SI; Graubard, Barry I BI; Chanock, Stephen J SJ; Rubertone, Mark V MV; Erickson, Ralph L RL; Hayes, Richard B RB; McGlynn, Katherine A KA
Publication Date: 2011-06

Variant appearance in text: rs6060373
PubMed Link: 21233139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

Plos Genetics
Smith, Erin N EN; Chen, Wei W; Kähönen, Mika M; Kettunen, Johannes J; Lehtimäki, Terho T; Peltonen, Leena L; Raitakari, Olli T OT; Salem, Rany M RM; Schork, Nicholas J NJ; Shaw, Marian M; Srinivasan, Sathanur R SR; Topol, Eric J EJ; Viikari, Jorma S JS; Berenson, Gerald S GS; Murray, Sarah S SS
Publication Date: 2010-09-09

Variant appearance in text: rs6060373
PubMed Link: 20838585
Variant Present in the following documents:
  • Main text
  • pgen.1001094.pdf
View BVdb publication page



Genome-wide association study of height and body mass index in Australian twin families.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Liu, Jimmy Z JZ; Medland, Sarah E SE; Wright, Margaret J MJ; Henders, Anjali K AK; Heath, Andrew C AC; Madden, Pamela A F PA; Duncan, Alexis A; Montgomery, Grant W GW; Martin, Nicholas G NG; McRae, Allan F AF
Publication Date: 2010-04

Variant appearance in text: rs6060373
PubMed Link: 20397748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the impact of global versus local ancestry in association studies.

Bmc Proceedings
Kang, Sun Jung SJ; Larkin, Emma K EK; Song, Yeunjoo Y; Barnholtz-Sloan, Jill J; Baechle, Dan D; Feng, Tao T; Zhu, Xiaofeng X
Publication Date: 2009-12-15

Variant appearance in text: rs6060373
PubMed Link: 20017971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.

Human Molecular Genetics
Tönjes, Anke A; Koriath, Moritz M; Schleinitz, Dorit D; Dietrich, Kerstin K; Böttcher, Yvonne Y; Rayner, Nigel W NW; Almgren, Peter P; Enigk, Beate B; Richter, Olaf O; Rohm, Silvio S; Fischer-Rosinsky, Antje A; Pfeiffer, Andreas A; Hoffmann, Katrin K; Krohn, Knut K; Aust, Gabriela G; Spranger, Joachim J; Groop, Leif L; Blüher, Matthias M; Kovacs, Peter P; Stumvoll, Michael M
Publication Date: 2009-12-01

Variant appearance in text: rs6060373
PubMed Link: 19729412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.

Plos Genetics
Sovio, Ulla U; Bennett, Amanda J AJ; Millwood, Iona Y IY; Molitor, John J; O'Reilly, Paul F PF; Timpson, Nicholas J NJ; Kaakinen, Marika M; Laitinen, Jaana J; Haukka, Jari J; Pillas, Demetris D; Tzoulaki, Ioanna I; Molitor, Jassy J; Hoggart, Clive C; Coin, Lachlan J M LJ; Whittaker, John J; Pouta, Anneli A; Hartikainen, Anna-Liisa AL; Freimer, Nelson B NB; Widen, Elisabeth E; Peltonen, Leena L; Elliott, Paul P; McCarthy, Mark I MI; Jarvelin, Marjo-Riitta MR
Publication Date: 2009-03

Variant appearance in text: rs6060373
PubMed Link: 19266077
Variant Present in the following documents:
  • Main text
  • pgen.1000409.pdf
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Genome-wide association analysis identifies 20 loci that influence adult height.

Nature Genetics
Weedon, Michael N MN; Lango, Hana H; Lindgren, Cecilia M CM; Wallace, Chris C; Evans, David M DM; Mangino, Massimo M; Freathy, Rachel M RM; Perry, John R B JR; Stevens, Suzanne S; Hall, Alistair S AS; Samani, Nilesh J NJ; Shields, Beverly B; Prokopenko, Inga I; Farrall, Martin M; Dominiczak, Anna A; , ; , ; Johnson, Toby T; Bergmann, Sven S; Beckmann, Jacques S JS; Vollenweider, Peter P; Waterworth, Dawn M DM; Mooser, Vincent V; Palmer, Colin N A CN; Morris, Andrew D AD; Ouwehand, Willem H WH; , ; Zhao, Jing Hua JH; Li, Shengxu S; Loos, Ruth J F RJ; Barroso, Inês I; Deloukas, Panagiotis P; Sandhu, Manjinder S MS; Wheeler, Eleanor E; Soranzo, Nicole N; Inouye, Michael M; Wareham, Nicholas J NJ; Caulfield, Mark M; Munroe, Patricia B PB; Hattersley, Andrew T AT; McCarthy, Mark I MI; Frayling, Timothy M TM
Publication Date: 2008-05

Variant appearance in text: rs6060373
PubMed Link: 18391952
Variant Present in the following documents:
  • Main text
View BVdb publication page