SLC38A8 c.170C>T ;(p.P57L)

Variant ID: 16-84075593-G-A

NM_001080442.1(SLC38A8):c.170C>T;(p.P57L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: SLC38A8: 170C>T; Pro57Leu
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



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: rs145119400
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: rs145119400
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: rs145119400
PubMed Link: 33038280
Variant Present in the following documents:
  • Main text
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Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.

American Journal Of Human Genetics
Spracklen, Cassandra N CN; Karaderi, Tugce T; Yaghootkar, Hanieh H; Schurmann, Claudia C; Fine, Rebecca S RS; Kutalik, Zoltan Z; Preuss, Michael H MH; Lu, Yingchang Y; Wittemans, Laura B L LBL; Adair, Linda S LS; Allison, Matthew M; Amin, Najaf N; Auer, Paul L PL; Bartz, Traci M TM; Blüher, Matthias M; Boehnke, Michael M; Borja, Judith B JB; Bork-Jensen, Jette J; Broer, Linda L; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chirstofidou, Paraskevi P; Demirkan, Ayse A; van Duijn, Cornelia M CM; Feitosa, Mary F MF; Garcia, Melissa E ME; Graff, Mariaelisa M; Grallert, Harald H; Grarup, Niels N; Guo, Xiuqing X; Haesser, Jeffrey J; Hansen, Torben T; Harris, Tamara B TB; Highland, Heather M HM; Hong, Jaeyoung J; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Rebecca R; Jousilahti, Pekka P; Kähönen, Mika M; Kizer, Jorge R JR; Kovacs, Peter P; Kriebel, Jennifer J; Laakso, Markku M; Lange, Leslie A LA; Lehtimäki, Terho T; Li, Jin J; Li-Gao, Ruifang R; Lind, Lars L; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mackey, David A DA; Mahajan, Anubha A; Mangino, Massimo M; Männistö, Satu S; McCarthy, Mark I MI; McKnight, Barbara B; Medina-Gomez, Carolina C; Meigs, James B JB; Molnos, Sophie S; Mook-Kanamori, Dennis D; Morris, Andrew P AP; de Mutsert, Renee R; Nalls, Mike A MA; Nedeljkovic, Ivana I; North, Kari E KE; Pennell, Craig E CE; Pradhan, Aruna D AD; Province, Michael A MA; Raitakari, Olli T OT; Raulerson, Chelsea K CK; Reiner, Alex P AP; Ridker, Paul M PM; Ripatti, Samuli S; Roberston, Neil N; Rotter, Jerome I JI; Salomaa, Veikko V; Sandoval-Zárate, America A AA; Sitlani, Colleen M CM; Spector, Tim D TD; Strauch, Konstantin K; Stumvoll, Michael M; Taylor, Kent D KD; Thuesen, Betina B; Tönjes, Anke A; Uitterlinden, Andre G AG; Venturini, Cristina C; Walker, Mark M; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Willems, Sara M SM; Willems van Dijk, Ko K; Wilson, James G JG; Wu, Ying Y; Yao, Jie J; Young, Kristin L KL; Langenberg, Claudia C; Frayling, Timothy M TM; Kilpeläinen, Tuomas O TO; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; Mohlke, Karen L KL
Publication Date: 2019-07-03

Variant appearance in text: SLC38A8: Pro57Leu; rs145119400
PubMed Link: 31178129
Variant Present in the following documents:
  • Main text
View BVdb publication page