NPC1L1 c.1496C>A ;(p.T499K)

Variant ID: 7-44578500-G-T

NM_001101648.1(NPC1L1):c.1496C>A;(p.T499K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience
Xu, Yu-Xin YX; Peloso, Gina M GM; Nagai, Taylor H TH; Mizoguchi, Taiji T; Deik, Amy A; Bullock, Kevin K; Lin, Honghuang H; Musunuru, Kiran K; Yang, Qiong Q; Vasan, Ramachandran S RS; Gerszten, Robert E RE; Clish, Clary B CB; Rader, Daniel D; Kathiresan, Sekar S
Publication Date: 2020-04-24

Variant appearance in text: rs35803101
PubMed Link: 32213464
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs35803101
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs35803101
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs35803101
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page