TOMM40 c.627C>T ;(p.D209=)

Variant ID: 19-45397307-C-T

NM_001128917.1(TOMM40):c.627C>T;(p.D209=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: rs112849259
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
  • noac171_suppl_suplementary_table_s1.xlsx, sheet 1
View BVdb publication page



Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis.

Bmc Medicine
Guo, Ping P; Gong, Weiming W; Li, Yuanming Y; Liu, Lu L; Yan, Ran R; Wang, Yanjun Y; Zhang, Yanan Y; Yuan, Zhongshang Z
Publication Date: 2022-06-22

Variant appearance in text: rs112849259
PubMed Link: 35729600
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies.

Plos One
Wickland, Daniel P DP; Ren, Yingxue Y; Sinnwell, Jason P JP; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Carrasquillo, Minerva M MM; Ross, Owen A OA; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew E ME; Mainzer, Liudmila Sergeevna LS; Biernacka, Joanna M JM; Asmann, Yan W YW
Publication Date: 2021

Variant appearance in text: rs112849259
PubMed Link: 33861770
Variant Present in the following documents:
  • Main text
  • pone.0249305.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: TOMM40: 627C>T; rs112849259
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study.

Plos One
Best, Lyle G LG; Balakrishnan, Poojitha P; Cole, Shelley A SA; Haack, Karin K; Kocarnik, Jonathan M JM; Pankratz, Nathan N; Anderson, Matthew Z MZ; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; North, Kari E KE; Umans, Jason G JG; Yracheta, Joseph M JM; Navas-Acien, Ana A; Voruganti, V Saroja VS
Publication Date: 2019

Variant appearance in text: rs112849259
PubMed Link: 31622379
Variant Present in the following documents:
  • Main text
  • pone.0223574.pdf
View BVdb publication page



Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

Plos One
Li, Qingqin S QS; Parrado, Antonio R AR; Samtani, Mahesh N MN; Narayan, Vaibhav A VA; ,
Publication Date: 2015

Variant appearance in text: TOMM40: D209D; rs112849259
PubMed Link: 26252872
Variant Present in the following documents:
  • pone.0134000.s003.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TOMM40: D209D
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Human Molecular Genetics
Schick, Ursula M UM; Auer, Paul L PL; Bis, Joshua C JC; Lin, Honghuang H; Wei, Peng P; Pankratz, Nathan N; Lange, Leslie A LA; Brody, Jennifer J; Stitziel, Nathan O NO; Kim, Daniel S DS; Carlson, Christopher S CS; Fornage, Myriam M; Haessler, Jeffery J; Hsu, Li L; Jackson, Rebecca D RD; Kooperberg, Charles C; Leal, Suzanne M SM; Psaty, Bruce M BM; Boerwinkle, Eric E; Tracy, Russell R; Ardissino, Diego D; Shah, Svati S; Willer, Cristen C; Loos, Ruth R; Melander, Olle O; Mcpherson, Ruth R; Hovingh, Kees K; Reilly, Muredach M; Watkins, Hugh H; Girelli, Domenico D; Fontanillas, Pierre P; Chasman, Daniel I DI; Gabriel, Stacey B SB; Gibbs, Richard R; Nickerson, Deborah A DA; Kathiresan, Sekar S; Peters, Ulrike U; Dupuis, Josée J; Wilson, James G JG; Rich, Stephen S SS; Morrison, Alanna C AC; Benjamin, Emelia J EJ; Gross, Myron D MD; Reiner, Alex P AP; , ; ,
Publication Date: 2015-01-15

Variant appearance in text: TOMM40: Asp209=; rs112849259
PubMed Link: 25187575
Variant Present in the following documents:
  • Main text
View BVdb publication page