TOMM40 c.644-1510C>T

Variant ID: 19-45402477-C-T

NM_001128917.1(TOMM40):c.644-1510C>T

This variant was identified in 2 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: rs34878901
PubMed Link: 34020725
Variant Present in the following documents:
  • 40478_2021_1199_MOESM1_ESM.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: rs34878901
PubMed Link: 31346172
Variant Present in the following documents:
  • 41467_2019_10945_MOESM1_ESM.pdf
View BVdb publication page