RIT2 c.103+17147A>G

Variant ID: 18-40678235-T-C

NM_002930.3(RIT2):c.103+17147A>G

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs4130047
PubMed Link: 34712594
Variant Present in the following documents:
  • Main text
  • main.pdf
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Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease.

Human Genomics
Kim, Sungjae S; Shin, Jong-Yeon JY; Kwon, Nak-Jung NJ; Kim, Chang-Uk CU; Kim, Changhoon C; Lee, Chong Sik CS; Seo, Jeong-Sun JS
Publication Date: 2021-08-28

Variant appearance in text: rs4130047
PubMed Link: 34454617
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_357.pdf
View BVdb publication page



Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

Human Genomics
Rahmani, Zahra Z; Fayyazi Bordbar, Mohammad Reza MR; Dibaj, Mohsen M; Alimardani, Maliheh M; Moghbeli, Meysam M
Publication Date: 2021-03-12

Variant appearance in text: rs4130047
PubMed Link: 33712060
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_319.pdf
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The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases.

Frontiers In Molecular Neuroscience
Qu, Liang L; Pan, Chao C; He, Shi-Ming SM; Lang, Bing B; Gao, Guo-Dong GD; Wang, Xue-Lian XL; Wang, Yuan Y
Publication Date: 2019

Variant appearance in text: rs4130047
PubMed Link: 31213978
Variant Present in the following documents:
  • Main text
  • fnmol-12-00121.pdf
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In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease.

Human Molecular Genetics
Uenaka, Takeshi T; Satake, Wataru W; Cha, Pei-Chieng PC; Hayakawa, Hideki H; Baba, Kousuke K; Jiang, Shiying S; Kobayashi, Kazuhiro K; Kanagawa, Motoi M; Okada, Yukinori Y; Mochizuki, Hideki H; Toda, Tatsushi T
Publication Date: 2018-11-15

Variant appearance in text: rs4130047
PubMed Link: 30137437
Variant Present in the following documents:
  • Main text
  • ddy279_supp.pdf
  • ddy279.pdf
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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: rs4130047
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
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Decision tree analysis of genetic risk for clinically heterogeneous Alzheimer's disease.

Bmc Neurology
Yokoyama, Jennifer S JS; Bonham, Luke W LW; Sears, Renee L RL; Klein, Eric E; Karydas, Anna A; Kramer, Joel H JH; Miller, Bruce L BL; Coppola, Giovanni G
Publication Date: 2015-03-28

Variant appearance in text: rs4130047
PubMed Link: 25880661
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_304.pdf
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Assessment of Parkinson's disease risk loci in Greece.

Neurobiology Of Aging
Kara, Eleanna E; Xiromerisiou, Georgia G; Spanaki, Cleanthe C; Bozi, Maria M; Koutsis, Georgios G; Panas, Marios M; Dardiotis, Efthimios E; Ralli, Styliani S; Bras, Jose J; Letson, Christopher C; Edsall, Connor C; Pliner, Hannah H; Arepalli, Sampath S; Kalinderi, Kallirhoe K; Fidani, Liana L; Bostantjopoulou, Sevasti S; Keller, Margaux F MF; Wood, Nicholas W NW; Hardy, John J; Houlden, Henry H; Stefanis, Leonidas L; Plaitakis, Andreas A; Hernandez, Dena D; Hadjigeorgiou, Georgios M GM; Nalls, Mike A MA; Singleton, Andrew B AB
Publication Date: 2014-02

Variant appearance in text: rs4130047
PubMed Link: 24080174
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Human Molecular Genetics
Keller, Margaux F MF; Saad, Mohamad M; Bras, Jose J; Bettella, Francesco F; Nicolaou, Nayia N; Simón-Sánchez, Javier J; Mittag, Florian F; Büchel, Finja F; Sharma, Manu M; Gibbs, J Raphael JR; Schulte, Claudia C; Moskvina, Valentina V; Durr, Alexandra A; Holmans, Peter P; Kilarski, Laura L LL; Guerreiro, Rita R; Hernandez, Dena G DG; Brice, Alexis A; Ylikotila, Pauli P; Stefánsson, Hreinn H; Majamaa, Kari K; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nicholas W NW; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; Nalls, Michael A MA; , ; ,
Publication Date: 2012-11-15

Variant appearance in text: rs4130047
PubMed Link: 22892372
Variant Present in the following documents:
  • Main text
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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Plos Genetics
Do, Chuong B CB; Tung, Joyce Y JY; Dorfman, Elizabeth E; Kiefer, Amy K AK; Drabant, Emily M EM; Francke, Uta U; Mountain, Joanna L JL; Goldman, Samuel M SM; Tanner, Caroline M CM; Langston, J William JW; Wojcicki, Anne A; Eriksson, Nicholas N
Publication Date: 2011-06

Variant appearance in text: rs4130047
PubMed Link: 21738487
Variant Present in the following documents:
  • Main text
  • pgen.1002141.pdf
View BVdb publication page