NAT1 c.-86+3238G>A

Variant ID: 8-18070927-G-A

NM_000662.8(NAT1):c.-86+3238G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Journal Of Neuromuscular Diseases
Tao, Feifei F; Beecham, Gary W GW; Rebelo, Adriana P AP; Blanton, Susan H SH; Moran, John J JJ; Lopez-Anido, Camila C; Svaren, John J; Abreu, Lisa L; Rizzo, Devon D; Kirk, Callyn A CA; Wu, Xingyao X; Feely, Shawna S; Verhamme, Camiel C; Saporta, Mario A MA; Herrmann, David N DN; Day, John W JW; Sumner, Charlotte J CJ; Lloyd, Thomas E TE; Li, Jun J; Yum, Sabrina W SW; Taroni, Franco F; Baas, Frank F; Choi, Byung-Ok BO; Pareyson, Davide D; Scherer, Steven S SS; Reilly, Mary M MM; Shy, Michael E ME; Züchner, Stephan S; ,
Publication Date: 2019

Variant appearance in text: rs11203943
PubMed Link: 30958311
Variant Present in the following documents:
  • Main text
  • jnd-6-jnd190377.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs11203943
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



DSM-5 cannabis use disorder: a phenotypic and genomic perspective.

Drug And Alcohol Dependence
Agrawal, Arpana A; Lynskey, Michael T MT; Bucholz, Kathleen K KK; Kapoor, Manav M; Almasy, Laura L; Dick, Danielle M DM; Edenberg, Howard J HJ; Foroud, Tatiana T; Goate, Alison A; Hancock, Dana B DB; Hartz, Sarah S; Johnson, Eric O EO; Hesselbrock, Victor V; Kramer, John R JR; Kuperman, Samuel S; Nurnberger, John I JI; Schuckit, Marc M; Bierut, Laura J LJ
Publication Date: 2014-01-01

Variant appearance in text: rs11203943
PubMed Link: 24315570
Variant Present in the following documents:
  • Main text
View BVdb publication page