CMTM6 c.315+192G>A

Variant ID: 3-32533010-C-T

NM_017801.2(CMTM6):c.315+192G>A

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs7640978
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
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LDL-C plays a causal role on T2DM: a Mendelian randomization analysis.

Aging
Pan, Wenbin W; Sun, Weiju W; Yang, Shuo S; Zhuang, He H; Jiang, Huijie H; Ju, Hong H; Wang, Donghua D; Han, Ying Y
Publication Date: 2020-02-10

Variant appearance in text: rs7640978
PubMed Link: 32040442
Variant Present in the following documents:
  • Main text
  • aging-12-102763.pdf
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Association of RBM5 rs2013208 SNP with serum lipid levels in two Chinese ethnic groups.

International Journal Of Clinical And Experimental Pathology
Gao, Hui H; Yin, Rui-Xing RX; Zhang, Qing-Hui QH; Li, Wei-Jun WJ; Huang, Jian-Hua JH; Bin, Yuan Y
Publication Date: 2017

Variant appearance in text: rs7640978
PubMed Link: 31966706
Variant Present in the following documents:
  • Main text
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Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs7640978
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs7640978
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
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Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs7640978
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
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A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs7640978
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
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Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation.

Scientific Reports
Domschke, Gabriele G; Linden, Fabian F; Pawig, Lukas L; Hafner, Anna A; Akhavanpoor, Mohammadreza M; Reymann, Jürgen J; Doesch, Andreas O AO; Erbel, Christian C; Weber, Christian C; Katus, Hugo A HA; Noels, Heidi H; Erfle, Holger H; Gleissner, Christian A CA; Runz, Heiko H
Publication Date: 2018-07-12

Variant appearance in text: rs7640978
PubMed Link: 30002403
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_28790.pdf
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Role of Blood Lipids in the Development of Ischemic Stroke and its Subtypes: A Mendelian Randomization Study.

Stroke
Hindy, George G; Engström, Gunnar G; Larsson, Susanna C SC; Traylor, Matthew M; Markus, Hugh S HS; Melander, Olle O; Orho-Melander, Marju M; ,
Publication Date: 2018-04

Variant appearance in text: rs7640978
PubMed Link: 29535274
Variant Present in the following documents:
  • str-49-820-s001.pdf
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Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
Christie, Shanice S; Robiou-du-Pont, Sébastien S; Anand, Sonia S SS; Morrison, Katherine M KM; McDonald, Sarah D SD; Paré, Guillaume G; Atkinson, Stephanie A SA; Teo, Koon K KK; Meyre, David D
Publication Date: 2017-03-06

Variant appearance in text: rs7640978
PubMed Link: 28250428
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_102.pdf
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Associations of genetic variants for adult lipid levels with lipid levels in children. The Generation R Study.

Journal Of Lipid Research
Latsuzbaia, Ardashel A; Jaddoe, Vincent W V VWV; Hofman, Albert A; Franco, Oscar H OH; Felix, Janine F JF
Publication Date: 2016-12

Variant appearance in text: rs7640978
PubMed Link: 27777320
Variant Present in the following documents:
  • Main text
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Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Publication Date: 2016-07

Variant appearance in text: rs7640978
PubMed Link: 27437086
Variant Present in the following documents:
  • Main text
  • tr-32-195.pdf
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Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Publication Date: 2015-12-22

Variant appearance in text: rs7640978
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
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Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

Nature Communications
van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Deelen, Joris J; Isaacs, Aaron A; Medina-Gomez, Carolina C; Mbarek, Hamdi H; Kanterakis, Alexandros A; Trompet, Stella S; Postmus, Iris I; Verweij, Niek N; van Enckevort, David J DJ; Huffman, Jennifer E JE; White, Charles C CC; Feitosa, Mary F MF; Bartz, Traci M TM; Manichaikul, Ani A; Joshi, Peter K PK; Peloso, Gina M GM; Deelen, Patrick P; van Dijk, Freerk F; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Francioli, Laurent C LC; Menelaou, Androniki A; Pulit, Sara L SL; Rivadeneira, Fernando F; Hofman, Albert A; Oostra, Ben A BA; Franco, Oscar H OH; Mateo Leach, Irene I; Beekman, Marian M; de Craen, Anton J M AJ; Uh, Hae-Won HW; Trochet, Holly H; Hocking, Lynne J LJ; Porteous, David J DJ; Sattar, Naveed N; Packard, Chris J CJ; Buckley, Brendan M BM; Brody, Jennifer A JA; Bis, Joshua C JC; Rotter, Jerome I JI; Mychaleckyj, Josyf C JC; Campbell, Harry H; Duan, Qing Q; Lange, Leslie A LA; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Vitart, Veronique V; Rudan, Igor I; Wright, Alan F AF; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Kearney, Patricia M PM; Stott, David J DJ; Adrienne Cupples, L L; , ; Jukema, J Wouter JW; van der Harst, Pim P; Sijbrands, Eric J EJ; Hottenga, Jouke-Jan JJ; Uitterlinden, Andre G AG; Swertz, Morris A MA; van Ommen, Gert-Jan B GJ; de Bakker, Paul I W PI; Eline Slagboom, P P; Boomsma, Dorret I DI; Wijmenga, Cisca C; van Duijn, Cornelia M CM
Publication Date: 2015-03-09

Variant appearance in text: rs7640978
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs7640978
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



Using multivariable Mendelian randomization to disentangle the causal effects of lipid fractions.

Plos One
Burgess, Stephen S; Freitag, Daniel F DF; Khan, Hassan H; Gorman, Donal N DN; Thompson, Simon G SG
Publication Date: 2014

Variant appearance in text: rs7640978
PubMed Link: 25302496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery and refinement of loci associated with lipid levels.

Nature Genetics
Willer, Cristen J CJ; Schmidt, Ellen M EM; Sengupta, Sebanti S; Peloso, Gina M GM; Gustafsson, Stefan S; Kanoni, Stavroula S; Ganna, Andrea A; Chen, Jin J; Buchkovich, Martin L ML; Mora, Samia S; Beckmann, Jacques S JS; Bragg-Gresham, Jennifer L JL; Chang, Hsing-Yi HY; Demirkan, Ayşe A; Den Hertog, Heleen M HM; Do, Ron R; Donnelly, Louise A LA; Ehret, Georg B GB; Esko, Tõnu T; Feitosa, Mary F MF; Ferreira, Teresa T; Fischer, Krista K; Fontanillas, Pierre P; Fraser, Ross M RM; Freitag, Daniel F DF; Gurdasani, Deepti D; Heikkilä, Kauko K; Hyppönen, Elina E; Isaacs, Aaron A; Jackson, Anne U AU; Johansson, Åsa Å; Johnson, Toby T; Kaakinen, Marika M; Kettunen, Johannes J; Kleber, Marcus E ME; Li, Xiaohui X; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Magnusson, Patrik K E PKE; Mangino, Massimo M; Mihailov, Evelin E; Montasser, May E ME; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Palmer, Cameron D CD; Perola, Markus M; Petersen, Ann-Kristin AK; Sanna, Serena S; Saxena, Richa R; Service, Susan K SK; Shah, Sonia S; Shungin, Dmitry D; Sidore, Carlo C; Song, Ci C; Strawbridge, Rona J RJ; Surakka, Ida I; Tanaka, Toshiko T; Teslovich, Tanya M TM; Thorleifsson, Gudmar G; Van den Herik, Evita G EG; Voight, Benjamin F BF; Volcik, Kelly A KA; Waite, Lindsay L LL; Wong, Andrew A; Wu, Ying Y; Zhang, Weihua W; Absher, Devin D; Asiki, Gershim G; Barroso, Inês I; Been, Latonya F LF; Bolton, Jennifer L JL; Bonnycastle, Lori L LL; Brambilla, Paolo P; Burnett, Mary S MS; Cesana, Giancarlo G; Dimitriou, Maria M; Doney, Alex S F ASF; Döring, Angela A; Elliott, Paul P; Epstein, Stephen E SE; Ingi Eyjolfsson, Gudmundur G; Gigante, Bruna B; Goodarzi, Mark O MO; Grallert, Harald H; Gravito, Martha L ML; Groves, Christopher J CJ; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Hernandez, Dena D; Hicks, Andrew A AA; Holm, Hilma H; Hung, Yi-Jen YJ; Illig, Thomas T; Jones, Michelle R MR; Kaleebu, Pontiano P; Kastelein, John J P JJP; Khaw, Kay-Tee KT; Kim, Eric E; Klopp, Norman N; Komulainen, Pirjo P; Kumari, Meena M; Langenberg, Claudia C; Lehtimäki, Terho T; Lin, Shih-Yi SY; Lindström, Jaana J; Loos, Ruth J F RJF; Mach, François F; McArdle, Wendy L WL; Meisinger, Christa C; Mitchell, Braxton D BD; Müller, Gabrielle G; Nagaraja, Ramaiah R; Narisu, Narisu N; Nieminen, Tuomo V M TVM; Nsubuga, Rebecca N RN; Olafsson, Isleifur I; Ong, Ken K KK; Palotie, Aarno A; Papamarkou, Theodore T; Pomilla, Cristina C; Pouta, Anneli A; Rader, Daniel J DJ; Reilly, Muredach P MP; Ridker, Paul M PM; Rivadeneira, Fernando F; Rudan, Igor I; Ruokonen, Aimo A; Samani, Nilesh N; Scharnagl, Hubert H; Seeley, Janet J; Silander, Kaisa K; Stančáková, Alena A; Stirrups, Kathleen K; Swift, Amy J AJ; Tiret, Laurence L; Uitterlinden, Andre G AG; van Pelt, L Joost LJ; Vedantam, Sailaja S; Wainwright, Nicholas N; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilsgaard, Tom T; Wilson, James F JF; Young, Elizabeth H EH; Zhao, Jing Hua JH; Adair, Linda S LS; Arveiler, Dominique D; Assimes, Themistocles L TL; Bandinelli, Stefania S; Bennett, Franklyn F; Bochud, Murielle M; Boehm, Bernhard O BO; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Bornstein, Stefan R SR; Bovet, Pascal P; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chambers, John C JC; Chen, Yii-Der Ida YI; Collins, Francis S FS; Cooper, Richard S RS; Danesh, John J; Dedoussis, George G; de Faire, Ulf U; Feranil, Alan B AB; Ferrières, Jean J; Ferrucci, Luigi L; Freimer, Nelson B NB; Gieger, Christian C; Groop, Leif C LC; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hingorani, Aroon A; Hirschhorn, Joel N JN; Hofman, Albert A; Hovingh, G Kees GK; Hsiung, Chao Agnes CA; Humphries, Steve E SE; Hunt, Steven C SC; Hveem, Kristian K; Iribarren, Carlos C; Järvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kaprio, Jaakko J; Kesäniemi, Antero A; Kivimaki, Mika M; Kooner, Jaspal S JS; Koudstaal, Peter J PJ; Krauss, Ronald M RM; Kuh, Diana D; Kuusisto, Johanna J; Kyvik, Kirsten O KO; Laakso, Markku M; Lakka, Timo A TA; Lind, Lars L; Lindgren, Cecilia M CM; Martin, Nicholas G NG; März, Winfried W; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Metspalu, Andres A; Moilanen, Leena L; Morris, Andrew D AD; Munroe, Patricia B PB; Njølstad, Inger I; Pedersen, Nancy L NL; Power, Chris C; Pramstaller, Peter P PP; Price, Jackie F JF; Psaty, Bruce M BM; Quertermous, Thomas T; Rauramaa, Rainer R; Saleheen, Danish D; Salomaa, Veikko V; Sanghera, Dharambir K DK; Saramies, Jouko J; Schwarz, Peter E H PEH; Sheu, Wayne H-H WH; Shuldiner, Alan R AR; Siegbahn, Agneta A; Spector, Tim D TD; Stefansson, Kari K; Strachan, David P DP; Tayo, Bamidele O BO; Tremoli, Elena E; Tuomilehto, Jaakko J; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vollenweider, Peter P; Wallentin, Lars L; Wareham, Nicholas J NJ; Whitfield, John B JB; Wolffenbuttel, Bruce H R BHR; Ordovas, Jose M JM; Boerwinkle, Eric E; Palmer, Colin N A CNA; Thorsteinsdottir, Unnur U; Chasman, Daniel I DI; Rotter, Jerome I JI; Franks, Paul W PW; Ripatti, Samuli S; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Rich, Stephen S SS; Boehnke, Michael M; Deloukas, Panos P; Kathiresan, Sekar S; Mohlke, Karen L KL; Ingelsson, Erik E; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-11

Variant appearance in text: rs7640978
PubMed Link: 24097068
Variant Present in the following documents:
  • Main text
  • NIHMS524703-supplement-1.pdf
  • nihms-524703.pdf
View BVdb publication page