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APOC3 c.180-334C>T
Variant ID: 11-116703146-C-T
NM_000040.1(
APOC3
):c.180-334C>T
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Spotlight on very-low-density lipoprotein as a driver of cardiometabolic disorders: Implications for disease progression and mechanistic insights.
Frontiers In Cardiovascular Medicine
Lee, Hsiang-Chun HC; Akhmedov, Alexander A; Chen, Chu-Huang CH
Publication Date: 2022
Variant appearance in text: rs5130
PubMed Link:
36267630
Variant Present in the following documents:
Main text
fcvm-09-993633.pdf
View BVdb publication page
Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.
Lipids In Health And Disease
Malalla, Zainab H ZH; Al-Serri, Ahmad E AE; AlAskar, Huda M HM; Al-Kandari, Wafaa Y WY; Al-Bustan, Suzanne A SA
Publication Date: 2019-12-19
Variant appearance in text: rs5130
PubMed Link:
31856839
Variant Present in the following documents:
Main text
12944_2019_Article_1165.pdf
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: APOC3: 180-334C>T; rs5130
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.
Human Molecular Genetics
Gilly, Arthur A; Ritchie, Graham Rs GR; Southam, Lorraine L; Farmaki, Aliki-Eleni AE; Tsafantakis, Emmanouil E; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2016-06-01
Variant appearance in text: rs5130
PubMed Link:
27146844
Variant Present in the following documents:
Main text
ddw088.pdf
View BVdb publication page