STAB1 c.7517T>G ;(p.M2506R)

Variant ID: 3-52558008-T-G

NM_015136.2(STAB1):c.7517T>G;(p.M2506R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Causal associations of circulating adiponectin with cardiometabolic diseases and osteoporotic fracture.

Scientific Reports
Zhang, Muzi M; Chen, Xiaojun X; Zhu, Yong Y; Yin, Lifeng L; Quan, Zhengxue Z; Ou, Yunsheng Y; He, Bin B
Publication Date: 2022-04-23

Variant appearance in text: rs13303
PubMed Link: 35461346
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_10586.pdf
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Genetic determinants of metabolic biomarkers and their associations with cardiometabolic traits in Hispanic/Latino adolescents.

Pediatric Research
Kim, Daeeun D; Justice, Anne E AE; Chittoor, Geetha G; Blanco, Estela E; Burrows, Raquel R; Graff, Mariaelisa M; Howard, Annie Green AG; Wang, Yujie Y; Rohde, Rebecca R; Buchanan, Victoria L VL; Voruganti, V Saroja VS; Almeida, Marcio M; Peralta, Juan J; Lehman, Donna M DM; Curran, Joanne E JE; Comuzzie, Anthony G AG; Duggirala, Ravindranath R; Blangero, John J; Albala, Cecilia C; Santos, José L JL; Angel, Bárbara B; Lozoff, Betsy B; Gahagan, Sheila S; North, Kari E KE
Publication Date: 2022-08

Variant appearance in text: rs13303
PubMed Link: 34645953
Variant Present in the following documents:
  • NIHMS1736148-supplement-1.pdf
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Circulating adipokine concentrations and risk of five obesity-related cancers: A Mendelian randomization study.

International Journal Of Cancer
Dimou, Niki L NL; Papadimitriou, Nikos N; Mariosa, Daniela D; Johansson, Mattias M; Brennan, Paul P; Peters, Ulrike U; Chanock, Stephen J SJ; Purdue, Mark M; Bishop, D Timothy DT; Gago-Dominquez, Manuela M; Giles, Graham G GG; Moreno, Victor V; Platz, Elizabeth A EA; Tangen, Catherine M CM; Wolk, Alicja A; Zheng, Wei W; Wu, Xifeng X; Campbell, Peter T PT; Giovannucci, Edward E; Lin, Yi Y; , ; Gunter, Marc J MJ; Murphy, Neil N
Publication Date: 2021-04-01

Variant appearance in text: rs13303
PubMed Link: 33038280
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs13303
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs13303
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
Justice, Anne E AE; Karaderi, Tugce T; Highland, Heather M HM; Young, Kristin L KL; Graff, Mariaelisa M; Lu, Yingchang Y; Turcot, Valérie V; Auer, Paul L PL; Fine, Rebecca S RS; Guo, Xiuqing X; Schurmann, Claudia C; Lempradl, Adelheid A; Marouli, Eirini E; Mahajan, Anubha A; Winkler, Thomas W TW; Locke, Adam E AE; Medina-Gomez, Carolina C; Esko, Tõnu T; Vedantam, Sailaja S; Giri, Ayush A; Lo, Ken Sin KS; Alfred, Tamuno T; Mudgal, Poorva P; Ng, Maggie C Y MCY; Heard-Costa, Nancy L NL; Feitosa, Mary F MF; Manning, Alisa K AK; Willems, Sara M SM; Sivapalaratnam, Suthesh S; Abecasis, Goncalo G; Alam, Dewan S DS; Allison, Matthew M; Amouyel, Philippe P; Arzumanyan, Zorayr Z; Balkau, Beverley B; Bastarache, Lisa L; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Collins, Francis S FS; Cook, James P JP; Cox, Amanda J AJ; Crosslin, David S DS; Danesh, John J; de Bakker, Paul I W PIW; Denus, Simon de S; Mutsert, Renée de R; Dedoussis, George G; Demerath, Ellen W EW; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Dörr, Marcus M; Drenos, Fotios F; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Fornage, Myriam M; Fox, Caroline S CS; Franks, Paul W PW; Friedrich, Nele N; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Girotto, Giorgia G; Gorski, Mathias M; Grallert, Harald H; Grarup, Niels N; Grove, Megan L ML; Gustafsson, Stefan S; Haessler, Jeff J; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Heid, Iris M IM; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Hung, Yi-Jen YJ; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jarvik, Gail P GP; Jia, Yucheng Y; Jørgensen, Torben T; Jousilahti, Pekka P; Justesen, Johanne M JM; Kahali, Bratati B; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kee, Frank F; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kovacs, Peter P; Krämer, Bernhard K BK; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lee, Wen-Jane WJ; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mägi, Reedik R; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Masca, Nicholas G D NGD; McCarthy, Mark I MI; Meidtner, Karina K; Mihailov, Evelin E; Moilanen, Leena L; Moitry, Marie M; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Ntalla, Ioanna I; O'Connell, Jeffrey R JR; Owen, Katharine R KR; Pedersen, Oluf O; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Ewing, Ailith A; Polasek, Ozren O; Raitakari, Olli T OT; Rasheed, Asif A; Raulerson, Chelsea K CK; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Ridker, Paul M PM; Rivas, Manuel A MA; Robertson, Neil R NR; Robino, Antonietta A; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo M; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Blair H BH; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swart, Karin M A KMA; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Torres, Mina M; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vanhala, Mauno M; Varma, Rohit R; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zheng, He H; Zhou, Wei W; Zillikens, M Carola MC; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Pospisilik, J Andrew JA; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; Mohlke, Karen L KL; Rotter, Jerome I JI; Kutalik, Zoltán Z; Hirschhorn, Joel N JN; Cupples, L Adrienne LA; Loos, Ruth J F RJF; North, Kari E KE; Lindgren, Cecilia M CM; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2019-03

Variant appearance in text: rs13303
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • NIHMS1016010-supplement-SupplementaryData5.xlsx, sheet 1
  • NIHMS1016010-supplement-Supplementaryfig.pdf
  • NIHMS1016010-supplement-SupplementaryData6.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData11.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData14.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData4.xlsx, sheet 1
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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: rs13303
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Molecular Psychiatry
Trampush, J W JW; Yang, M L Z ML; Yu, J J; Knowles, E E; Davies, G G; Liewald, D C DC; Starr, J M JM; Djurovic, S S; Melle, I I; Sundet, K K; Christoforou, A A; Reinvang, I I; DeRosse, P P; Lundervold, A J AJ; Steen, V M VM; Espeseth, T T; Räikkönen, K K; Widen, E E; Palotie, A A; Eriksson, J G JG; Giegling, I I; Konte, B B; Roussos, P P; Giakoumaki, S S; Burdick, K E KE; Payton, A A; Ollier, W W; Horan, M M; Chiba-Falek, O O; Attix, D K DK; Need, A C AC; Cirulli, E T ET; Voineskos, A N AN; Stefanis, N C NC; Avramopoulos, D D; Hatzimanolis, A A; Arking, D E DE; Smyrnis, N N; Bilder, R M RM; Freimer, N A NA; Cannon, T D TD; London, E E; Poldrack, R A RA; Sabb, F W FW; Congdon, E E; Conley, E D ED; Scult, M A MA; Dickinson, D D; Straub, R E RE; Donohoe, G G; Morris, D D; Corvin, A A; Gill, M M; Hariri, A R AR; Weinberger, D R DR; Pendleton, N N; Bitsios, P P; Rujescu, D D; Lahti, J J; Le Hellard, S S; Keller, M C MC; Andreassen, O A OA; Deary, I J IJ; Glahn, D C DC; Malhotra, A K AK; Lencz, T T
Publication Date: 2017-03

Variant appearance in text: rs13303
PubMed Link: 28093568
Variant Present in the following documents:
  • mp2016244x2.xlsx, sheet 3
View BVdb publication page



Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10

Variant appearance in text: rs13303
PubMed Link: 27618447
Variant Present in the following documents:
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 5
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: rs13303
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs13303
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page