TOMM40 c.627C>G ;(p.D209E)

Variant ID: 19-45397307-C-G

NM_001128917.1(TOMM40):c.627C>G;(p.D209E)

This variant was identified in 6 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_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: 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



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: TOMM40: D209E
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page