ADGRD1 c.2436+203A>G

Variant ID: 12-131621762-A-G

NM_198827.3(ADGRD1):c.2436+203A>G

This variant was identified in 10 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: rs885389
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine
Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ
Publication Date: 2020-08

Variant appearance in text: rs885389
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-s001.pdf
View BVdb publication page



Evolution and Comprehensive Analysis of DNaseI Hypersensitive Sites in Regulatory Regions of Primate Brain-Related Genes.

Frontiers In Genetics
Lu, Yueer Y; Wang, Xiao X; Yu, Hang H; Li, Jianlin J; Jiang, Zhiqiang Z; Chen, Bangwei B; Lu, Yueqi Y; Wang, Wei W; Han, Chongyin C; Ouyang, Ying Y; Huang, Lizhen L; Chen, Chunbo C; Tian, Weidong W; Ling, Fei F
Publication Date: 2019

Variant appearance in text: rs885389
PubMed Link: 30930929
Variant Present in the following documents:
  • Main text
  • fgene-10-00152.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: GPR133: 2436+203A>G; rs885389
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Publication Date: 2016-07

Variant appearance in text: rs885389
PubMed Link: 27437086
Variant Present in the following documents:
  • Main text
  • tr-32-195.pdf
View BVdb publication page



Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One
Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR
Publication Date: 2014

Variant appearance in text: rs885389
PubMed Link: 24846176
Variant Present in the following documents:
  • Main text
  • pone.0097380.pdf
View BVdb publication page



SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs885389
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
  • pone.0057216.pdf
View BVdb publication page



Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.

Heart Rhythm
Deo, R R; Nalls, M A MA; Avery, C L CL; Smith, J G JG; Evans, D S DS; Keller, M F MF; Butler, A M AM; Buxbaum, S G SG; Li, G G; Miguel Quibrera, P P; Smith, E N EN; Tanaka, T T; Akylbekova, E L EL; Alonso, A A; Arking, D E DE; Benjamin, E J EJ; Berenson, G S GS; Bis, J C JC; Chen, L Y LY; Chen, W W; Cummings, S R SR; Ellinor, P T PT; Evans, M K MK; Ferrucci, L L; Fox, E R ER; Heckbert, S R SR; Heiss, G G; Hsueh, W C WC; Kerr, K F KF; Limacher, M C MC; Liu, Y Y; Lubitz, S A SA; Magnani, J W JW; Mehra, R R; Marcus, G M GM; Murray, S S SS; Newman, A B AB; Njajou, O O; North, K E KE; Paltoo, D N DN; Psaty, B M BM; Redline, S S SS; Reiner, A P AP; Robinson, J G JG; Rotter, J I JI; Samdarshi, T E TE; Schnabel, R B RB; Schork, N J NJ; Singleton, A B AB; Siscovick, D D; Soliman, E Z EZ; Sotoodehnia, N N; Srinivasan, S R SR; Taylor, H A HA; Trevisan, M M; Zhang, Z Z; Zonderman, A B AB; Newton-Cheh, C C; Whitsel, E A EA
Publication Date: 2013-03

Variant appearance in text: rs885389
PubMed Link: 23183192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs885389
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.

Circulation. Cardiovascular Genetics
Marroni, Fabio F; Pfeufer, Arne A; Aulchenko, Yurii S YS; Franklin, Christopher S CS; Isaacs, Aaron A; Pichler, Irene I; Wild, Sarah H SH; Oostra, Ben A BA; Wright, Alan F AF; Campbell, Harry H; Witteman, Jacqueline C JC; Kääb, Stefan S; Hicks, Andrew A AA; Gyllensten, Ulf U; Rudan, Igor I; Meitinger, Thomas T; Pattaro, Cristian C; van Duijn, Cornelia M CM; Wilson, James F JF; Pramstaller, Peter P PP; ,
Publication Date: 2009-08

Variant appearance in text: rs885389
PubMed Link: 20031603
Variant Present in the following documents:
  • Main text
View BVdb publication page