SNCA c.307-28113C>A

Variant ID: 4-90678541-G-T

NM_000345.3(SNCA):c.307-28113C>A

This variant was identified in 71 publications

View GRCh38 version.




Publications:


Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

International Journal Of Molecular Sciences
Roberts, Bradley B; Theunissen, Frances F; Mastaglia, Francis L FL; Akkari, P Anthony PA; Flynn, Loren L LL
Publication Date: 2022-08-19

Variant appearance in text: rs2736990
PubMed Link: 36012622
Variant Present in the following documents:
  • ijms-23-09364.pdf
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Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: rs2736990
PubMed Link: 35893043
Variant Present in the following documents:
  • genes-13-01306.pdf
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SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included.

Plos Computational Biology
Sun, Jianle J; Lyu, Ruiqi R; Deng, Luojia L; Li, Qianwen Q; Zhao, Yang Y; Zhang, Yue Y
Publication Date: 2022-03

Variant appearance in text: rs2736990
PubMed Link: 35286307
Variant Present in the following documents:
  • Main text
  • pcbi.1009948.pdf
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Alpha-Synuclein Aggregation in Parkinson's Disease.

Frontiers In Medicine
Srinivasan, E E; Chandrasekhar, G G; Chandrasekar, P P; Anbarasu, K K; Vickram, A S AS; Karunakaran, Rohini R; Rajasekaran, R R; Srikumar, P S PS
Publication Date: 2021

Variant appearance in text: rs2736990
PubMed Link: 34733860
Variant Present in the following documents:
  • Main text
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Replication of chromosomal loci involved in Parkinson's disease: A quantitative synthesis of GWAS.

Toxicology Reports
Rikos, Dimitrios D; Siokas, Vasileios V; Burykina, Tatyana I TI; Drakoulis, Nikolaos N; Dardiotis, Efthimios E; Zintzaras, Elias E
Publication Date: 2021

Variant appearance in text: rs2736990
PubMed Link: 34712594
Variant Present in the following documents:
  • Main text
  • main.pdf
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iPS Cell-Based Model for MAPT Haplotype as a Risk Factor for Human Tauopathies Identifies No Major Differences in TAU Expression.

Frontiers In Cell And Developmental Biology
Strauß, Tabea T; Marvian-Tayaranian, Amir A; Sadikoglou, Eldem E; Dhingra, Ashutosh A; Wegner, Florian F; Trümbach, Dietrich D; Wurst, Wolfgang W; Heutink, Peter P; Schwarz, Sigrid C SC; Höglinger, Günter U GU
Publication Date: 2021

Variant appearance in text: rs2736990
PubMed Link: 34532319
Variant Present in the following documents:
  • Main text
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Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Frontiers In Aging Neuroscience
Guo, Yi Y; Sun, Yan Y; Song, Zhi Z; Zheng, Wen W; Xiong, Wei W; Yang, Yan Y; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021

Variant appearance in text: rs2736990
PubMed Link: 34456707
Variant Present in the following documents:
  • Main text
  • fnagi-13-648151.pdf
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The Impact of SNCA Variations and Its Product Alpha-Synuclein on Non-Motor Features of Parkinson's Disease.

Life (Basel, Switzerland)
Magistrelli, Luca L; Contaldi, Elena E; Comi, Cristoforo C
Publication Date: 2021-08-09

Variant appearance in text: rs2736990
PubMed Link: 34440548
Variant Present in the following documents:
  • Main text
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Shared Genetic Background between Parkinson's Disease and Schizophrenia: A Two-Sample Mendelian Randomization Study.

Brain Sciences
Kim, Kiwon K; Kim, Soyeon S; Myung, Woojae W; Shim, Injeong I; Lee, Hyewon H; Kim, Beomsu B; Cho, Sung Kweon SK; Yoon, Joohyun J; Kim, Doh Kwan DK; Won, Hong-Hee HH
Publication Date: 2021-08-06

Variant appearance in text: rs2736990
PubMed Link: 34439661
Variant Present in the following documents:
  • Main text
  • brainsci-11-01042.pdf
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A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson's disease.

Npj Parkinson'S Disease
Pedersen, Camilla Christina CC; Lange, Johannes J; Førland, Marthe Gurine Gunnarsdatter MGG; Macleod, Angus D AD; Alves, Guido G; Maple-Grødem, Jodi J
Publication Date: 2021-07-01

Variant appearance in text: rs2736990
PubMed Link: 34210990
Variant Present in the following documents:
  • 41531_2021_196_MOESM1_ESM.pdf
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An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Journal Of Parkinson'S Disease
Schechter, Meir M; Sharon, Ronit R
Publication Date: 2021

Variant appearance in text: rs2736990
PubMed Link: 34151859
Variant Present in the following documents:
  • Main text
  • jpd-11-jpd212684.pdf
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Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.

Translational Neurodegeneration
Li, Dunhui D; McIntosh, Craig Stewart CS; Mastaglia, Frank Louis FL; Wilton, Steve Donald SD; Aung-Htut, May Thandar MT
Publication Date: 2021-05-20

Variant appearance in text: rs2736990
PubMed Link: 34016162
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_240.pdf
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Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease
Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O
Publication Date: 2021-02-11

Variant appearance in text: rs2736990
PubMed Link: 33574311
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_157.pdf
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Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson's Disease and Multiple System Atrophy in a Chinese Population.

Frontiers In Neuroscience
Chen, Yongping Y; Ou, Ruwei R; Zhang, Lingyu L; Gu, Xiaojing X; Yuan, Xiaoqin X; Wei, Qian-Qian QQ; Cao, Bei B; Zhao, Bi B; Wu, Ying Y; Shang, Huifang H
Publication Date: 2020

Variant appearance in text: rs2736990
PubMed Link: 33013295
Variant Present in the following documents:
  • fnins-14-00889.pdf
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Genetic Risk Factors for Essential Tremor: A Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Siokas, Vasileios V; Aloizou, Athina-Maria AM; Tsouris, Zisis Z; Liampas, Ioannis I; Aslanidou, Paraskevi P; Dastamani, Metaxia M; Brotis, Alexandros G AG; Bogdanos, Dimitrios P DP; Hadjigeorgiou, Georgios M GM; Dardiotis, Efthimios E
Publication Date: 2020-06-11

Variant appearance in text: rs2736990
PubMed Link: 32775018
Variant Present in the following documents:
  • tohm-10-1-67-s2.pdf
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SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.

Journal Of Cellular And Molecular Medicine
Zhao, Aonan A; Li, Yuanyuan Y; Niu, Mengyue M; Li, Guanglu G; Luo, Ningdi N; Zhou, Liche L; Kang, Wenyan W; Liu, Jun J
Publication Date: 2020-08

Variant appearance in text: rs2736990
PubMed Link: 32652860
Variant Present in the following documents:
  • Main text
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Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Seo, Soo Hyun SH; Bacolla, Albino A; Yoo, Dallah D; Koo, Yoon Jung YJ; Cho, Sung Im SI; Kim, Man Jin MJ; Seong, Moon-Woo MW; Kim, Han-Joon HJ; Kim, Jong-Min JM; Tainer, John A JA; Park, Sung Sup SS; Kim, Ji Yeon JY; Jeon, Beomseok B
Publication Date: 2020-05

Variant appearance in text: rs2736990
PubMed Link: 32039503
Variant Present in the following documents:
  • Main text
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Integrating Biological Knowledge Into Case-Control Analysis Through Iterated Conditional Modes/Medians Algorithm.

Journal Of Computational Biology : A Journal Of Computational Molecular Cell Biology
Pungpapong, Vitara V; Zhang, Min M; Zhang, Dabao D
Publication Date: 2020-07

Variant appearance in text: rs2736990
PubMed Link: 31692371
Variant Present in the following documents:
  • Main text
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MicroRNAs Dysregulation and Metabolism in Multiple System Atrophy.

Frontiers In Neuroscience
Xiang, Chunchen C; Han, Shunchang S; Nao, Jianfei J; Cong, Shuyan S
Publication Date: 2019

Variant appearance in text: rs2736990
PubMed Link: 31680837
Variant Present in the following documents:
  • Main text
  • fnins-13-01103.pdf
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Parkinson's disease in China: a forty-year growing track of bedside work.

Translational Neurodegeneration
Li, Gen G; Ma, Jianfang J; Cui, Shishuang S; He, Yixi Y; Xiao, Qin Q; Liu, Jun J; Chen, Shengdi S
Publication Date: 2019

Variant appearance in text: rs2736990
PubMed Link: 31384434
Variant Present in the following documents:
  • Main text
  • 40035_2019_Article_162.pdf
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A Comprehensive Analysis of the Association Between SNCA Polymorphisms and the Risk of Parkinson's Disease.

Frontiers In Molecular Neuroscience
Zhang, Yuan Y; Shu, Li L; Sun, Qiying Q; Pan, Hongxu H; Guo, Jifeng J; Tang, Beisha B
Publication Date: 2018

Variant appearance in text: rs2736990
PubMed Link: 30410434
Variant Present in the following documents:
  • Main text
  • fnmol-11-00391.pdf
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Species and cell-type properties of classically defined human and rodent neurons and glia.

Elife
Xu, Xiao X; Stoyanova, Elitsa I EI; Lemiesz, Agata E AE; Xing, Jie J; Mash, Deborah C DC; Heintz, Nathaniel N
Publication Date: 2018-10-15

Variant appearance in text: rs2736990
PubMed Link: 30320555
Variant Present in the following documents:
  • Main text
  • elife-37551.pdf
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Alpha-synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3'UTR.

Molecular Genetics & Genomic Medicine
Barrie, Elizabeth S ES; Lee, Sung-Ha SH; Frater, John T JT; Kataki, Maria M; Scharre, Douglas W DW; Sadee, Wolfgang W
Publication Date: 2018-05-06

Variant appearance in text: rs2736990
PubMed Link: 29730891
Variant Present in the following documents:
  • Main text
  • MGG3-6-565.pdf
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Advancing Stem Cell Models of Alpha-Synuclein Gene Regulation in Neurodegenerative Disease.

Frontiers In Neuroscience
Piper, Desiree A DA; Sastre, Danuta D; Schüle, Birgitt B
Publication Date: 2018

Variant appearance in text: rs2736990
PubMed Link: 29686602
Variant Present in the following documents:
  • Main text
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Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies.

Genes
Gámez-Valero, Ana A; Beyer, Katrin K
Publication Date: 2018-01-25

Variant appearance in text: rs2736990
PubMed Link: 29370097
Variant Present in the following documents:
  • Main text
  • genes-09-00063.pdf
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Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation.

The Lancet. Neurology
Latourelle, Jeanne C JC; Beste, Michael T MT; Hadzi, Tiffany C TC; Miller, Robert E RE; Oppenheim, Jacob N JN; Valko, Matthew P MP; Wuest, Diane M DM; Church, Bruce W BW; Khalil, Iya G IG; Hayete, Boris B; Venuto, Charles S CS
Publication Date: 2017-11

Variant appearance in text: rs2736990
PubMed Link: 28958801
Variant Present in the following documents:
  • NIHMS910076-supplement.pdf
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Genetic Variants in SNCA and the Risk of Sporadic Parkinson's Disease and Clinical Outcomes: A Review.

Parkinson'S Disease
Campêlo, Clarissa Loureiro das Chagas CLDC; Silva, Regina Helena RH
Publication Date: 2017

Variant appearance in text: rs2736990
PubMed Link: 28781905
Variant Present in the following documents:
  • Main text
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Variants in SNCA Gene Are Associated with Parkinson's Disease Risk and Cognitive Symptoms in a Brazilian Sample.

Frontiers In Aging Neuroscience
Campêlo, Clarissa L C CLC; Cagni, Fernanda C FC; de Siqueira Figueredo, Diego D; Oliveira, Luiz G LG; Silva-Neto, Antônio B AB; Macêdo, Priscila T PT; Santos, José R JR; Izídio, Geison S GS; Ribeiro, Alessandra M AM; de Andrade, Tiago G TG; de Oliveira Godeiro, Clécio C; Silva, Regina H RH
Publication Date: 2017

Variant appearance in text: rs2736990
PubMed Link: 28676755
Variant Present in the following documents:
  • Main text
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A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease.

Plos One
Hayete, Boris B; Wuest, Diane D; Laramie, Jason J; McDonagh, Paul P; Church, Bruce B; Eberly, Shirley S; Lang, Anthony A; Marek, Kenneth K; Runge, Karl K; Shoulson, Ira I; Singleton, Andrew A; Tanner, Caroline C; Khalil, Iya I; Verma, Ajay A; Ravina, Bernard B
Publication Date: 2017

Variant appearance in text: rs2736990
PubMed Link: 28604798
Variant Present in the following documents:
  • Main text
  • pone.0178982.pdf
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Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

Jama Neurology
Witoelar, Aree A; Jansen, Iris E IE; Wang, Yunpeng Y; Desikan, Rahul S RS; Gibbs, J Raphael JR; Blauwendraat, Cornelis C; Thompson, Wesley K WK; Hernandez, Dena G DG; Djurovic, Srdjan S; Schork, Andrew J AJ; Bettella, Francesco F; Ellinghaus, David D; Franke, Andre A; Lie, Benedicte A BA; McEvoy, Linda K LK; Karlsen, Tom H TH; Lesage, Suzanne S; Morris, Huw R HR; Brice, Alexis A; Wood, Nicholas W NW; Heutink, Peter P; Hardy, John J; Singleton, Andrew B AB; Dale, Anders M AM; Gasser, Thomas T; Andreassen, Ole A OA; Sharma, Manu M; ,
Publication Date: 2017-07-01

Variant appearance in text: rs2736990
PubMed Link: 28586827
Variant Present in the following documents:
  • Main text
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Deregulation of α-synuclein in Parkinson's disease: Insight from epigenetic structure and transcriptional regulation of SNCA.

Progress In Neurobiology
Guhathakurta, Subhrangshu S; Bok, Eugene E; Evangelista, Baggio A BA; Kim, Yoon-Seong YS
Publication Date: 2017-07

Variant appearance in text: rs2736990
PubMed Link: 28445713
Variant Present in the following documents:
  • Main text
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Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs2736990
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
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Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration.

Current Neurology And Neuroscience Reports
Vermunt, Marit W MW; Creyghton, Menno P MP
Publication Date: 2016-10

Variant appearance in text: rs2736990
PubMed Link: 27628759
Variant Present in the following documents:
  • Main text
  • 11910_2016_Article_689.pdf
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Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Neurobiology Of Aging
Davis, Albert A AA; Andruska, Kristin M KM; Benitez, Bruno A BA; Racette, Brad A BA; Perlmutter, Joel S JS; Cruchaga, Carlos C
Publication Date: 2016-01

Variant appearance in text: rs2736990
PubMed Link: 26601739
Variant Present in the following documents:
  • Main text
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Genetic Variants of SNCA Are Associated with Susceptibility to Parkinson's Disease but Not Amyotrophic Lateral Sclerosis or Multiple System Atrophy in a Chinese Population.

Plos One
Chen, YongPing Y; Wei, Qian-Qian QQ; Ou, RuWei R; Cao, Bei B; Chen, XuePing X; Zhao, Bi B; Guo, XiaoYan X; Yang, Yuan Y; Chen, Ke K; Wu, Ying Y; Song, Wei W; Shang, Hui-Fang HF
Publication Date: 2015

Variant appearance in text: rs2736990
PubMed Link: 26208350
Variant Present in the following documents:
  • Main text
  • pone.0133776.pdf
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Coffee, Genetic Variants, and Parkinson's Disease: Gene-Environment Interactions.

Journal Of Caffeine Research
Yamada-Fowler, Naomi N; Söderkvist, Peter P
Publication Date: 2015-03-01

Variant appearance in text: rs2736990
PubMed Link: 25785234
Variant Present in the following documents:
  • Main text
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Multiple system atrophy: the application of genetics in understanding etiology.

Clinical Autonomic Research : Official Journal Of The Clinical Autonomic Research Society
Federoff, Monica M; Schottlaender, Lucia V LV; Houlden, Henry H; Singleton, Andrew A
Publication Date: 2015-02

Variant appearance in text: rs2736990
PubMed Link: 25687905
Variant Present in the following documents:
  • Main text
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The neurogenetics of atypical parkinsonian disorders.

Seminars In Neurology
Fogel, Brent L BL; Clark, Mary C MC; Geschwind, Daniel H DH
Publication Date: 2014-04

Variant appearance in text: rs2736990
PubMed Link: 24963681
Variant Present in the following documents:
  • Main text
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Rationale for therapeutic silencing of alpha-synuclein in Parkinson's disease.

Journal Of Movement Disorders
Maraganore, Demetrius M DM
Publication Date: 2011-05

Variant appearance in text: rs2736990
PubMed Link: 24868385
Variant Present in the following documents:
  • Main text
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Human genetic variation and Parkinson's disease.

Journal Of Movement Disorders
Chung, Sun Ju SJ
Publication Date: 2010-05

Variant appearance in text: rs2736990
PubMed Link: 24868370
Variant Present in the following documents:
  • Main text
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The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.

Human Molecular Genetics
Linnertz, Colton C; Lutz, Michael W MW; Ervin, John F JF; Allen, Jawara J; Miller, Natalie R NR; Welsh-Bohmer, Kathleen A KA; Roses, Allen D AD; Chiba-Falek, Ornit O
Publication Date: 2014-09-15

Variant appearance in text: rs2736990
PubMed Link: 24777780
Variant Present in the following documents:
  • Main text
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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs2736990
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
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Association studies of sporadic Parkinson's disease in the genomic era.

Current Genomics
Labbé, Catherine C; Ross, Owen A OA
Publication Date: 2014-02

Variant appearance in text: rs2736990
PubMed Link: 24653658
Variant Present in the following documents:
  • Main text
  • CG-15-2.pdf
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Construction and analysis of single nucleotide polymorphism-single nucleotide polymorphism interaction networks.

Iet Systems Biology
Liu, Yang Y; Li, Xutao X; Liu, Zhiping Z; Chen, Luonan L; Ng, Michael K MK
Publication Date: 2013-10

Variant appearance in text: rs2736990
PubMed Link: 24067417
Variant Present in the following documents:
  • Main text
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Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.

European Journal Of Human Genetics : Ejhg
Bochdanovits, Zoltán Z; Simón-Sánchez, Javier J; Jonker, Marianne M; Hoogendijk, Witte J WJ; van der Vaart, Aad A; Heutink, Peter P
Publication Date: 2014-02

Variant appearance in text: rs2736990
PubMed Link: 23736218
Variant Present in the following documents:
  • Main text
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Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

Parkinsonism & Related Disorders
Chung, Sun Ju SJ; Armasu, Sebastian M SM; Anderson, Kari J KJ; Biernacka, Joanna M JM; Lesnick, Timothy G TG; Rider, David N DN; Cunningham, Julie M JM; Ahlskog, J Eric JE; Frigerio, Roberta R; Maraganore, Demetrius M DM
Publication Date: 2013-06

Variant appearance in text: rs2736990
PubMed Link: 23507417
Variant Present in the following documents:
  • Main text
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A robust and efficient statistical method for genetic association studies using case and control samples from multiple cohorts.

Bmc Genomics
Wang, Minghui M; Wang, Lin L; Jiang, Ning N; Jia, Tianye T; Luo, Zewei Z
Publication Date: 2013-02-08

Variant appearance in text: rs2736990
PubMed Link: 23394771
Variant Present in the following documents:
  • Main text
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Genetic variation in the alpha synuclein gene (SNCA) is associated with BOLD response to alcohol cues.

Journal Of Studies On Alcohol And Drugs
Wilcox, Claire E CE; Claus, Eric D ED; Blaine, Sara K SK; Morgan, Marilee M; Hutchison, Kent E KE
Publication Date: 2013-03

Variant appearance in text: rs2736990
PubMed Link: 23384371
Variant Present in the following documents:
  • Main text
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Evaluation of the role of SNCA variants in survival without neurological disease.

Plos One
Heckman, Michael G MG; Soto-Ortolaza, Alexandra I AI; Diehl, Nancy N NN; Carrasquillo, Minerva M MM; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Graff-Radford, Neill R NR; Ross, Owen A OA
Publication Date: 2012

Variant appearance in text: rs2736990
PubMed Link: 22912757
Variant Present in the following documents:
  • Main text
  • pone.0042877.pdf
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