UQCC1 c.130-3245G>T

Variant ID: 20-33975181-C-A

NM_018244.4(UQCC1):c.130-3245G>T

This variant was identified in 13 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: rs6088813
PubMed Link: 36568030
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Wellcome Open Research
Jackson, Victoria E VE; Latourelle, Jeanne C JC; Wain, Louise V LV; Smith, Albert V AV; Grove, Megan L ML; Bartz, Traci M TM; Obeidat, Ma'en M; Province, Michael A MA; Gao, Wei W; Qaiser, Beenish B; Porteous, David J DJ; Cassano, Patricia A PA; Ahluwalia, Tarunveer S TS; Grarup, Niels N; Li, Jin J; Altmaier, Elisabeth E; Marten, Jonathan J; Harris, Sarah E SE; Manichaikul, Ani A; Pottinger, Tess D TD; Li-Gao, Ruifang R; Lind-Thomsen, Allan A; Mahajan, Anubha A; Lahousse, Lies L; Imboden, Medea M; Teumer, Alexander A; Prins, Bram B; Lyytikäinen, Leo-Pekka LP; Eiriksdottir, Gudny G; Franceschini, Nora N; Sitlani, Colleen M CM; Brody, Jennifer A JA; Bossé, Yohan Y; Timens, Wim W; Kraja, Aldi A; Loukola, Anu A; Tang, Wenbo W; Liu, Yongmei Y; Bork-Jensen, Jette J; Justesen, Johanne M JM; Linneberg, Allan A; Lange, Leslie A LA; Rawal, Rajesh R; Karrasch, Stefan S; Huffman, Jennifer E JE; Smith, Blair H BH; Davies, Gail G; Burkart, Kristin M KM; Mychaleckyj, Josyf C JC; Bonten, Tobias N TN; Enroth, Stefan S; Lind, Lars L; Brusselle, Guy G GG; Kumar, Ashish A; Stubbe, Beate B; , ; Kähönen, Mika M; Wyss, Annah B AB; Psaty, Bruce M BM; Heckbert, Susan R SR; Hao, Ke K; Rantanen, Taina T; Kritchevsky, Stephen B SB; Lohman, Kurt K; Skaaby, Tea T; Pisinger, Charlotta C; Hansen, Torben T; Schulz, Holger H; Polasek, Ozren O; Campbell, Archie A; Starr, John M JM; Rich, Stephen S SS; Mook-Kanamori, Dennis O DO; Johansson, Åsa Å; Ingelsson, Erik E; Uitterlinden, André G AG; Weiss, Stefan S; Raitakari, Olli T OT; Gudnason, Vilmundur V; North, Kari E KE; Gharib, Sina A SA; Sin, Don D DD; Taylor, Kent D KD; O'Connor, George T GT; Kaprio, Jaakko J; Harris, Tamara B TB; Pederson, Oluf O; Vestergaard, Henrik H; Wilson, James G JG; Strauch, Konstantin K; Hayward, Caroline C; Kerr, Shona S; Deary, Ian J IJ; Barr, R Graham RG; de Mutsert, Renée R; Gyllensten, Ulf U; Morris, Andrew P AP; Ikram, M Arfan MA; Probst-Hensch, Nicole N; Gläser, Sven S; Zeggini, Eleftheria E; Lehtimäki, Terho T; Strachan, David P DP; Dupuis, Josée J; Morrison, Alanna C AC; Hall, Ian P IP; Tobin, Martin D MD; London, Stephanie J SJ
Publication Date: 2018

Variant appearance in text: rs6088813
PubMed Link: 30175238
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-3-16020.pdf
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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: rs6088813
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
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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: rs6088813
PubMed Link: 28671685
Variant Present in the following documents:
  • Main text
  • nihms-884460.pdf
  • NIHMS884460-supplement-2.pdf
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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: rs6088813
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-9.pdf
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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: rs6088813
PubMed Link: 25848760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing for genetic associations in arbitrarily structured populations.

Nature Genetics
Song, Minsun M; Hao, Wei W; Storey, John D JD
Publication Date: 2015-05

Variant appearance in text: rs6088813
PubMed Link: 25822090
Variant Present in the following documents:
  • NIHMS664591-supplement-1.pdf
View BVdb publication page



Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.

Plos One
Hämäläinen, Satu S; Solovieva, Svetlana S; Vehmas, Tapio T; Luoma, Katariina K; Leino-Arjas, Päivi P; Hirvonen, Ari A
Publication Date: 2014

Variant appearance in text: rs6088813
PubMed Link: 24825461
Variant Present in the following documents:
  • Main text
  • pone.0097417.pdf
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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: rs6088813
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: rs6088813
PubMed Link: 21637794
Variant Present in the following documents:
  • Main text
  • pgen.1002078.pdf
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A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22.

Arthritis And Rheumatism
Kerkhof, Hanneke J M HJ; Lories, Rik J RJ; Meulenbelt, Ingrid I; Jonsdottir, Ingileif I; Valdes, Ana M AM; Arp, Pascal P; Ingvarsson, Thorvaldur T; Jhamai, Mila M; Jonsson, Helgi H; Stolk, Lisette L; Thorleifsson, Gudmar G; Zhai, Guangju G; Zhang, Feng F; Zhu, Yanyan Y; van der Breggen, Ruud R; Carr, Andrew A; Doherty, Michael M; Doherty, Sally S; Felson, David T DT; Gonzalez, Antonio A; Halldorsson, Bjarni V BV; Hart, Deborah J DJ; Hauksson, Valdimar B VB; Hofman, Albert A; Ioannidis, John P A JP; Kloppenburg, Margreet M; Lane, Nancy E NE; Loughlin, John J; Luyten, Frank P FP; Nevitt, Michael C MC; Parimi, Neeta N; Pols, Huibert A P HA; Rivadeneira, Fernando F; Slagboom, Eline P EP; Styrkársdóttir, Unnur U; Tsezou, Aspasia A; van de Putte, Tom T; Zmuda, Joseph J; Spector, Tim D TD; Stefansson, Kari K; Uitterlinden, André G AG; van Meurs, Joyce B J JB
Publication Date: 2010-02

Variant appearance in text: rs6088813
PubMed Link: 20112360
Variant Present in the following documents:
  • Main text
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Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

American Journal Of Human Genetics
Guernsey, Duane L DL; Jiang, Haiyan H; Evans, Susan C SC; Ferguson, Meghan M; Matsuoka, Makoto M; Nightingale, Mathew M; Rideout, Andrea L AL; Provost, Sylvie S; Bedard, Karen K; Orr, Andrew A; Dubé, Marie-Pierre MP; Ludman, Mark M; Samuels, Mark E ME
Publication Date: 2009-07

Variant appearance in text: rs6088813
PubMed Link: 19576563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

Plos Genetics
Soranzo, Nicole N; Rivadeneira, Fernando F; Chinappen-Horsley, Usha U; Malkina, Ida I; Richards, J Brent JB; Hammond, Naomi N; Stolk, Lisette L; Nica, Alexandra A; Inouye, Michael M; Hofman, Albert A; Stephens, Jonathan J; Wheeler, Eleanor E; Arp, Pascal P; Gwilliam, Rhian R; Jhamai, P Mila PM; Potter, Simon S; Chaney, Amy A; Ghori, Mohammed J R MJ; Ravindrarajah, Radhi R; Ermakov, Sergey S; Estrada, Karol K; Pols, Huibert A P HA; Williams, Frances M FM; McArdle, Wendy L WL; van Meurs, Joyce B JB; Loos, Ruth J F RJ; Dermitzakis, Emmanouil T ET; Ahmadi, Kourosh R KR; Hart, Deborah J DJ; Ouwehand, Willem H WH; Wareham, Nicholas J NJ; Barroso, Inês I; Sandhu, Manjinder S MS; Strachan, David P DP; Livshits, Gregory G; Spector, Timothy D TD; Uitterlinden, André G AG; Deloukas, Panos P
Publication Date: 2009-04

Variant appearance in text: rs6088813
PubMed Link: 19343178
Variant Present in the following documents:
  • Main text
  • pgen.1000445.pdf
View BVdb publication page