APOE c.305C>G ;(p.P102R)

Variant ID: 19-45411858-C-G

NM_000041.2(APOE):c.305C>G;(p.P102R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: APOE: Pro102Arg
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics
Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T
Publication Date: 2022-06-01

Variant appearance in text: APOE: Pro102Arg; rs11083750
PubMed Link: 35641666
Variant Present in the following documents:
  • Main text
  • 10038_2022_Article_1050.pdf
View BVdb publication page



Influence of CYP4F2, ApoE, and CYP2A6 gene polymorphisms on the variability of Warfarin dosage requirements and susceptibility to cardiovascular disease in Jordan.

International Journal Of Medical Sciences
Al-Eitan, Laith N LN; Almasri, Ayah Y AY; Alnaamneh, Adan H AH; Aman, Hatem A HA; Alrabadi, Nasr N NN; Khasawneh, Rame H RH; Alghamdi, Mansour A MA
Publication Date: 2021

Variant appearance in text: rs11083750
PubMed Link: 33437219
Variant Present in the following documents:
  • Main text
  • ijmsv18p0826.pdf
View BVdb publication page



APOE and dementia - resequencing and genotyping in 105,597 individuals.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Rasmussen, Katrine L KL; Tybjaerg-Hansen, Anne A; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R
Publication Date: 2020-12

Variant appearance in text: APOE: Pro102Arg; rs11083750
PubMed Link: 32808727
Variant Present in the following documents:
  • ALZ-16-1624.pdf
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: rs11083750
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page



In silico analyses of deleterious missense SNPs of human apolipoprotein E3.

Scientific Reports
Pires, Allan S AS; Porto, William F WF; Franco, Octavio L OL; Alencar, Sérgio A SA
Publication Date: 2017-05-30

Variant appearance in text: APOE: Pro102Arg; rs11083750
PubMed Link: 28559539
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_1737.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APOE: P102R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Genetic Epidemiology
Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Raffield, Laura M LM; Ng, Maggie C Y MC; Hawkins, Gregory A GA; Long, Jirong J; Lorenzo, Carlos C; Norris, Jill M JM; Ida Chen, Y-D YD; Speliotes, Elizabeth K EK; Rotter, Jerome I JI; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW
Publication Date: 2014-05

Variant appearance in text: APOE: P102R; rs11083750
PubMed Link: 24719370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation
Marduel, Marie M; Ouguerram, Khadija K; Serre, Valérie V; Bonnefont-Rousselot, Dominique D; Marques-Pinheiro, Alice A; Erik Berge, Knut K; Devillers, Martine M; Luc, Gérald G; Lecerf, Jean-Michel JM; Tosolini, Laurent L; Erlich, Danièle D; Peloso, Gina M GM; Stitziel, Nathan N; Nitchké, Patrick P; Jaïs, Jean-Philippe JP; , ; Abifadel, Marianne M; Kathiresan, Sekar S; Leren, Trond Paul TP; Rabès, Jean-Pierre JP; Boileau, Catherine C; Varret, Mathilde M
Publication Date: 2013-01

Variant appearance in text: APOE: Pro102Arg
PubMed Link: 22949395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology Research International
Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 22530123
Variant Present in the following documents:
View BVdb publication page