TOMM40 c.946+495A>G

Variant ID: 19-45405062-A-G

NM_001128917.1(TOMM40):c.946+495A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease.

Acta Neuropathologica Communications
Reddy, Joseph S JS; Allen, Mariet M; Ho, Charlotte C G CCG; Oatman, Stephanie R SR; İş, Özkan Ö; Quicksall, Zachary S ZS; Wang, Xue X; Jin, Jiangli J; Patel, Tulsi A TA; Carnwath, Troy P TP; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Carrasquillo, Minerva M MM; Crook, Julia E JE; Kanekiyo, Takahisa T; Murray, Melissa E ME; Bu, Guojun G; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Publication Date: 2021-05-21

Variant appearance in text: rs1038026
PubMed Link: 34020725
Variant Present in the following documents:
  • 40478_2021_1199_MOESM1_ESM.pdf
View BVdb publication page



Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.

Frontiers In Aging Neuroscience
Vogrinc, David D; Goričar, Katja K; Dolžan, Vita V
Publication Date: 2021

Variant appearance in text: rs1038026
PubMed Link: 33815092
Variant Present in the following documents:
  • Main text
  • fnagi-13-646901.pdf
View BVdb publication page



Non-coding variability at the APOE locus contributes to the Alzheimer's risk.

Nature Communications
Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY
Publication Date: 2019-07-25

Variant appearance in text: rs1038026
PubMed Link: 31346172
Variant Present in the following documents:
  • 41467_2019_10945_MOESM1_ESM.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: rs1038026
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Human Molecular Genetics
Kocarnik, Jonathan M JM; Richard, Melissa M; Graff, Misa M; Haessler, Jeffrey J; Bien, Stephanie S; Carlson, Chris C; Carty, Cara L CL; Reiner, Alexander P AP; Avery, Christy L CL; Ballantyne, Christie M CM; LaCroix, Andrea Z AZ; Assimes, Themistocles L TL; Barbalic, Maja M; Pankratz, Nathan N; Tang, Weihong W; Tao, Ran R; Chen, Dongquan D; Talavera, Gregory A GA; Daviglus, Martha L ML; Chirinos-Medina, Diana A DA; Pereira, Rocio R; Nishimura, Katie K; Bužková, Petra P; Best, Lyle G LG; Ambite, José Luis JL; Cheng, Iona I; Crawford, Dana C DC; Hindorff, Lucia A LA; Fornage, Myriam M; Heiss, Gerardo G; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Le Marchand, Loic L; Kooperberg, Charles C
Publication Date: 2018-08-15

Variant appearance in text: rs1038026
PubMed Link: 29878111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs1038026
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.pdf
  • pgen.1003379.s001.pdf
View BVdb publication page