LDLRAD1 c.125C>T ;(p.S42F)

Variant ID: 1-54479986-G-A

NM_001010978.3(LDLRAD1):c.125C>T;(p.S42F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Plos One
Hahn, Julie J; Fu, Yi-Ping YP; Brown, Michael R MR; Bis, Joshua C JC; de Vries, Paul S PS; Feitosa, Mary F MF; Yanek, Lisa R LR; Weiss, Stefan S; Giulianini, Franco F; Smith, Albert Vernon AV; Guo, Xiuqing X; Bartz, Traci M TM; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Brody, Jennifer A JA; Chen, Yii-Der Ida YI; Franco, Oscar H OH; Grove, Megan M; Harris, Tamara B TB; Hofman, Albert A; Hwang, Shih-Jen SJ; Kral, Brian G BG; Launer, Lenore J LJ; Markus, Marcello R P MRP; Rice, Kenneth M KM; Rich, Stephen S SS; Ridker, Paul M PM; Rivadeneira, Fernando F; Rotter, Jerome I JI; Sotoodehnia, Nona N; Taylor, Kent D KD; Uitterlinden, André G AG; Völker, Uwe U; Völzke, Henry H; Yao, Jie J; Chasman, Daniel I DI; Dörr, Marcus M; Gudnason, Vilmundur V; Mathias, Rasika A RA; Post, Wendy W; Psaty, Bruce M BM; Dehghan, Abbas A; O'Donnell, Christopher J CJ; Morrison, Alanna C AC
Publication Date: 2020

Variant appearance in text: rs76122098
PubMed Link: 33186364
Variant Present in the following documents:
  • Main text
  • pone.0230035.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs76122098
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page