APOE c.716T>A ;(p.M239K)

Variant ID: 19-45412269-T-A

NM_000041.2(APOE):c.716T>A;(p.M239K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ
Publication Date: 2017-12

Variant appearance in text: APOE: Met239Lys
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
  • nihms909133.pdf
View BVdb publication page



Expanded genetic screening panel for the Ashkenazi Jewish population.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baskovich, Brett B; Hiraki, Susan S; Upadhyay, Kinnari K; Meyer, Philip P; Carmi, Shai S; Barzilai, Nir N; Darvasi, Ariel A; Ozelius, Laurie L; Peter, Inga I; Cho, Judy H JH; Atzmon, Gil G; Clark, Lorraine L; Yu, Jin J; Lencz, Todd T; Pe'er, Itsik I; Ostrer, Harry H; Oddoux, Carole C
Publication Date: 2016-05

Variant appearance in text: APOE: M239K
PubMed Link: 26334176
Variant Present in the following documents:
  • Main text
View BVdb publication page