SLC17A1 c.208-1473A>T

Variant ID: 6-25821616-T-A

NM_005074.3(SLC17A1):c.208-1473A>T

This variant was identified in 20 publications

View GRCh38 version.




Publications:


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: rs1165151
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.

Nutrients
Zhang, Xinruo X; Mass, Baba B BB; Talevi, Valentina V; Hou, Ruixue R; North, Kari E KE; Voruganti, Venkata Saroja VS
Publication Date: 2022-09-28

Variant appearance in text: rs1165151
PubMed Link: 36235682
Variant Present in the following documents:
  • nutrients-14-04030.pdf
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Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study.

Archives Of Medical Science : Ams
Mazidi, Mohsen M; Shekoohi, Niloofar N; Katsiki, Niki N; Rakowski, Michal M; Mikhailidis, Dimitri P DP; Banach, Maciej M
Publication Date: 2021

Variant appearance in text: rs1165151
PubMed Link: 34025845
Variant Present in the following documents:
  • Main text
  • AMS-17-3-119965.pdf
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Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.

Neurology(R) Neuroimmunology & Neuroinflammation
Harroud, Adil A; Richards, J Brent JB; Baranzini, Sergio E SE
Publication Date: 2021-01

Variant appearance in text: rs1165151
PubMed Link: 33214142
Variant Present in the following documents:
  • Main text
  • NEURIMMINFL2020030502.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs1165151
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs1165151
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
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Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study.

Frontiers In Genetics
Niu, Peng-Peng PP; Song, Bo B; Wang, Xue X; Xu, Yu-Ming YM
Publication Date: 2020

Variant appearance in text: rs1165151
PubMed Link: 32292418
Variant Present in the following documents:
  • Main text
  • fgene-11-00254.pdf
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Assessment Causality in Associations Between Serum Uric Acid and Risk of Schizophrenia: A Two-Sample Bidirectional Mendelian Randomization Study.

Clinical Epidemiology
Luo, Qianqian Q; Wen, Zheng Z; Li, Yuanfan Y; Chen, Zefeng Z; Long, Xinyang X; Bai, Yulan Y; Huang, Shengzhu S; Yan, Yunkun Y; Lin, Rui R; Mo, Zengnan Z
Publication Date: 2020

Variant appearance in text: rs1165151
PubMed Link: 32161502
Variant Present in the following documents:
  • Main text
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Mendelian randomization study of serum uric acid levels and diabetes risk: evidence from the Dongfeng-Tongji cohort.

Bmj Open Diabetes Research & Care
Keerman, Mulatibieke M; Yang, Fen F; Hu, Hua H; Wang, Jing J; Wang, Fei F; Li, Zhaoyang Z; Yuan, Jing J; Yao, Ping P; Zhang, Xiaomin X; Guo, Huan H; Yang, Handong H; He, Meian M
Publication Date: 2020-02

Variant appearance in text: rs1165151
PubMed Link: 32111716
Variant Present in the following documents:
  • Main text
  • bmjdrc-2019-000834supp001.pdf
  • bmjdrc-2019-000834.pdf
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Genetically Determined Uric Acid and the Risk of Cardiovascular and Neurovascular Diseases: A Mendelian Randomization Study of Outcomes Investigated in Randomized Trials.

Journal Of The American Heart Association
Efstathiadou, Anthoula A; Gill, Dipender D; McGrane, Frances F; Quinn, Terence T; Dawson, Jesse J
Publication Date: 2019-09-03

Variant appearance in text: rs1165151
PubMed Link: 31438759
Variant Present in the following documents:
  • JAH3-8-e012738-s001.pdf
  • JAH3-8-e012738.pdf
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Interactions between serum urate-associated genetic variants and sex on gout risk: analysis of the UK Biobank.

Arthritis Research & Therapy
Narang, Ravi K RK; Topless, Ruth R; Cadzow, Murray M; Gamble, Greg G; Stamp, Lisa K LK; Merriman, Tony R TR; Dalbeth, Nicola N
Publication Date: 2019-01-09

Variant appearance in text: rs1165151
PubMed Link: 30626429
Variant Present in the following documents:
  • Main text
  • 13075_2018_Article_1787.pdf
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Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

Scientific Reports
Jing, Jiaojiao J; Ekici, Arif B AB; Sitter, Thomas T; Eckardt, Kai-Uwe KU; Schaeffner, Elke E; Li, Yong Y; Kronenberg, Florian F; Köttgen, Anna A; Schultheiss, Ulla T UT
Publication Date: 2018-09-04

Variant appearance in text: rs1165151
PubMed Link: 30181573
Variant Present in the following documents:
  • Main text
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Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease.

Annals Of Neurology
Kia, Demis A DA; Noyce, Alastair J AJ; White, Jon J; Speed, Doug D; Nicolas, Aude A; , ; Burgess, Stephen S; Lawlor, Debbie A DA; Davey Smith, George G; Singleton, Andrew A; Nalls, Mike A MA; Sofat, Reecha R; Wood, Nicholas W NW
Publication Date: 2018-08

Variant appearance in text: rs1165151
PubMed Link: 30014513
Variant Present in the following documents:
  • Main text
  • emss-82521.pdf
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MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank.

Annals Of The Rheumatic Diseases
Li, Xue X; Meng, Xiangrui X; Spiliopoulou, Athina A; Timofeeva, Maria M; Wei, Wei-Qi WQ; Gifford, Aliya A; Shen, Xia X; He, Yazhou Y; Varley, Tim T; McKeigue, Paul P; Tzoulaki, Ioanna I; Wright, Alan F AF; Joshi, Peter P; Denny, Joshua C JC; Campbell, Harry H; Theodoratou, Evropi E
Publication Date: 2018-07

Variant appearance in text: rs1165151
PubMed Link: 29437585
Variant Present in the following documents:
  • Main text
  • annrheumdis-2017-212534supp001.pdf
  • annrheumdis-2017-212534.pdf
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Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports
Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C
Publication Date: 2017-06-22

Variant appearance in text: rs1165151
PubMed Link: 28642574
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4127.pdf
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Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.

The Lancet. Diabetes & Endocrinology
White, Jon J; Sofat, Reecha R; Hemani, Gibran G; Shah, Tina T; Engmann, Jorgen J; Dale, Caroline C; Shah, Sonia S; Kruger, Felix A FA; Giambartolomei, Claudia C; Swerdlow, Daniel I DI; Palmer, Tom T; McLachlan, Stela S; Langenberg, Claudia C; Zabaneh, Delilah D; Lovering, Ruth R; Cavadino, Alana A; Jefferis, Barbara B; Finan, Chris C; Wong, Andrew A; Amuzu, Antoinette A; Ong, Ken K; Gaunt, Tom R TR; Warren, Helen H; Davies, Teri-Louise TL; Drenos, Fotios F; Cooper, Jackie J; Ebrahim, Shah S; Lawlor, Debbie A DA; Talmud, Philippa J PJ; Humphries, Steve E SE; Power, Christine C; Hypponen, Elina E; Richards, Marcus M; Hardy, Rebecca R; Kuh, Diana D; Wareham, Nicholas N; Ben-Shlomo, Yoav Y; Day, Ian N IN; Whincup, Peter P; Morris, Richard R; Strachan, Mark W J MW; Price, Jacqueline J; Kumari, Meena M; Kivimaki, Mika M; Plagnol, Vincent V; Whittaker, John C JC; , ; Smith, George Davey GD; Dudbridge, Frank F; Casas, Juan P JP; Holmes, Michael V MV; Hingorani, Aroon D AD; ,
Publication Date: 2016-04

Variant appearance in text: rs1165151
PubMed Link: 26781229
Variant Present in the following documents:
  • mmc1.pdf
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Mendelian randomization studies of biomarkers and type 2 diabetes.

Endocrine Connections
Abbasi, Ali A
Publication Date: 2015-12

Variant appearance in text: rs1165151
PubMed Link: 26446360
Variant Present in the following documents:
  • Main text
  • ec-04-249.pdf
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Uric Acid and Cardiovascular Events: A Mendelian Randomization Study.

Journal Of The American Society Of Nephrology : Jasn
Kleber, Marcus E ME; Delgado, Graciela G; Grammer, Tanja B TB; Silbernagel, Günther G; Huang, Jie J; Krämer, Bernhard K BK; Ritz, Eberhard E; März, Winfried W
Publication Date: 2015-11

Variant appearance in text: rs1165151
PubMed Link: 25788527
Variant Present in the following documents:
  • Main text
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Nature Genetics
Köttgen, Anna A; Albrecht, Eva E; Teumer, Alexander A; Vitart, Veronique V; Krumsiek, Jan J; Hundertmark, Claudia C; Pistis, Giorgio G; Ruggiero, Daniela D; O'Seaghdha, Conall M CM; Haller, Toomas T; Yang, Qiong Q; Tanaka, Toshiko T; Johnson, Andrew D AD; Kutalik, Zoltán Z; Smith, Albert V AV; Shi, Julia J; Struchalin, Maksim M; Middelberg, Rita P S RP; Brown, Morris J MJ; Gaffo, Angelo L AL; Pirastu, Nicola N; Li, Guo G; Hayward, Caroline C; Zemunik, Tatijana T; Huffman, Jennifer J; Yengo, Loic L; Zhao, Jing Hua JH; Demirkan, Ayse A; Feitosa, Mary F MF; Liu, Xuan X; Malerba, Giovanni G; Lopez, Lorna M LM; van der Harst, Pim P; Li, Xinzhong X; Kleber, Marcus E ME; Hicks, Andrew A AA; Nolte, Ilja M IM; Johansson, Asa A; Murgia, Federico F; Wild, Sarah H SH; Bakker, Stephan J L SJ; Peden, John F JF; Dehghan, Abbas A; Steri, Maristella M; Tenesa, Albert A; Lagou, Vasiliki V; Salo, Perttu P; Mangino, Massimo M; Rose, Lynda M LM; Lehtimäki, Terho T; Woodward, Owen M OM; Okada, Yukinori Y; Tin, Adrienne A; Müller, Christian C; Oldmeadow, Christopher C; Putku, Margus M; Czamara, Darina D; Kraft, Peter P; Frogheri, Laura L; Thun, Gian Andri GA; Grotevendt, Anne A; Gislason, Gauti Kjartan GK; Harris, Tamara B TB; Launer, Lenore J LJ; McArdle, Patrick P; Shuldiner, Alan R AR; Boerwinkle, Eric E; Coresh, Josef J; Schmidt, Helena H; Schallert, Michael M; Martin, Nicholas G NG; Montgomery, Grant W GW; Kubo, Michiaki M; Nakamura, Yusuke Y; Tanaka, Toshihiro T; Munroe, Patricia B PB; Samani, Nilesh J NJ; Jacobs, David R DR; Liu, Kiang K; D'Adamo, Pio P; Ulivi, Sheila S; Rotter, Jerome I JI; Psaty, Bruce M BM; Vollenweider, Peter P; Waeber, Gerard G; Campbell, Susan S; Devuyst, Olivier O; Navarro, Pau P; Kolcic, Ivana I; Hastie, Nicholas N; Balkau, Beverley B; Froguel, Philippe P; Esko, Tõnu T; Salumets, Andres A; Khaw, Kay Tee KT; Langenberg, Claudia C; Wareham, Nicholas J NJ; Isaacs, Aaron A; Kraja, Aldi A; Zhang, Qunyuan Q; Wild, Philipp S PS; Scott, Rodney J RJ; Holliday, Elizabeth G EG; Org, Elin E; Viigimaa, Margus M; Bandinelli, Stefania S; Metter, Jeffrey E JE; Lupo, Antonio A; Trabetti, Elisabetta E; Sorice, Rossella R; Döring, Angela A; Lattka, Eva E; Strauch, Konstantin K; Theis, Fabian F; Waldenberger, Melanie M; Wichmann, H-Erich HE; Davies, Gail G; Gow, Alan J AJ; Bruinenberg, Marcel M; , ; Stolk, Ronald P RP; Kooner, Jaspal S JS; Zhang, Weihua W; Winkelmann, Bernhard R BR; Boehm, Bernhard O BO; Lucae, Susanne S; Penninx, Brenda W BW; Smit, Johannes H JH; Curhan, Gary G; Mudgal, Poorva P; Plenge, Robert M RM; Portas, Laura L; Persico, Ivana I; Kirin, Mirna M; Wilson, James F JF; Mateo Leach, Irene I; van Gilst, Wiek H WH; Goel, Anuj A; Ongen, Halit H; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Imboden, Medea M; von Eckardstein, Arnold A; Cucca, Francesco F; Nagaraja, Ramaiah R; Piras, Maria Grazia MG; Nauck, Matthias M; Schurmann, Claudia C; Budde, Kathrin K; Ernst, Florian F; Farrington, Susan M SM; Theodoratou, Evropi E; Prokopenko, Inga I; Stumvoll, Michael M; Jula, Antti A; Perola, Markus M; Salomaa, Veikko V; Shin, So-Youn SY; Spector, Tim D TD; Sala, Cinzia C; Ridker, Paul M PM; Kähönen, Mika M; Viikari, Jorma J; Hengstenberg, Christian C; Nelson, Christopher P CP; , ; , ; , ; , ; Meschia, James F JF; Nalls, Michael A MA; Sharma, Pankaj P; Singleton, Andrew B AB; Kamatani, Naoyuki N; Zeller, Tanja T; Burnier, Michel M; Attia, John J; Laan, Maris M; Klopp, Norman N; Hillege, Hans L HL; Kloiber, Stefan S; Choi, Hyon H; Pirastu, Mario M; Tore, Silvia S; Probst-Hensch, Nicole M NM; Völzke, Henry H; Gudnason, Vilmundur V; Parsa, Afshin A; Schmidt, Reinhold R; Whitfield, John B JB; Fornage, Myriam M; Gasparini, Paolo P; Siscovick, David S DS; Polašek, Ozren O; Campbell, Harry H; Rudan, Igor I; Bouatia-Naji, Nabila N; Metspalu, Andres A; Loos, Ruth J F RJ; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Ferrucci, Luigi L; Gambaro, Giovanni G; Deary, Ian J IJ; Wolffenbuttel, Bruce H R BH; Chambers, John C JC; März, Winfried W; Pramstaller, Peter P PP; Snieder, Harold H; Gyllensten, Ulf U; Wright, Alan F AF; Navis, Gerjan G; Watkins, Hugh H; Witteman, Jacqueline C M JC; Sanna, Serena S; Schipf, Sabine S; Dunlop, Malcolm G MG; Tönjes, Anke A; Ripatti, Samuli S; Soranzo, Nicole N; Toniolo, Daniela D; Chasman, Daniel I DI; Raitakari, Olli O; Kao, W H Linda WH; Ciullo, Marina M; Fox, Caroline S CS; Caulfield, Mark M; Bochud, Murielle M; Gieger, Christian C
Publication Date: 2013-02

Variant appearance in text: rs1165151
PubMed Link: 23263486
Variant Present in the following documents:
  • Main text
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Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis.

Plos One
Theodoratou, Evropi E; Palmer, Tom T; Zgaga, Lina L; Farrington, Susan M SM; McKeigue, Paul P; Din, Farhat V N FV; Tenesa, Albert A; Davey-Smith, George G; Dunlop, Malcolm G MG; Campbell, Harry H
Publication Date: 2012

Variant appearance in text: rs1165151
PubMed Link: 22701574
Variant Present in the following documents:
View BVdb publication page