ABCG8 c.1211+137G>A

Variant ID: 2-44099582-G-A

NM_022437.2(ABCG8):c.1211+137G>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


High-throughput multivariable Mendelian randomization analysis prioritizes apolipoprotein B as key lipid risk factor for coronary artery disease.

International Journal Of Epidemiology
Zuber, Verena V; Gill, Dipender D; Ala-Korpela, Mika M; Langenberg, Claudia C; Butterworth, Adam A; Bottolo, Leonardo L; Burgess, Stephen S
Publication Date: 2021-07-09

Variant appearance in text: rs4148218
PubMed Link: 33130851
Variant Present in the following documents:
  • dyaa216_supplementary_data.pdf
View BVdb publication page



Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization.

Bmc Ophthalmology
Xu, Mengqiao M; Li, Shengguo S; Zhu, Jundong J; Luo, Dawei D; Song, Weitao W; Zhou, Minwen M
Publication Date: 2020-10-02

Variant appearance in text: rs4148218
PubMed Link: 33008364
Variant Present in the following documents:
  • Main text
  • 12886_2020_Article_1661.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 1211+137G>A
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Selecting likely causal risk factors from high-throughput experiments using multivariable Mendelian randomization.

Nature Communications
Zuber, Verena V; Colijn, Johanna Maria JM; Klaver, Caroline C; Burgess, Stephen S
Publication Date: 2020-01-07

Variant appearance in text: rs4148218
PubMed Link: 31911605
Variant Present in the following documents:
  • 41467_2019_13870_MOESM1_ESM.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: ABCG8: 1211+137G>A; rs4148218
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs4148218
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
View BVdb publication page



Role of Blood Lipids in the Development of Ischemic Stroke and its Subtypes: A Mendelian Randomization Study.

Stroke
Hindy, George G; Engström, Gunnar G; Larsson, Susanna C SC; Traylor, Matthew M; Markus, Hugh S HS; Melander, Olle O; Orho-Melander, Marju M; ,
Publication Date: 2018-04

Variant appearance in text: rs4148218
PubMed Link: 29535274
Variant Present in the following documents:
  • str-49-820-s001.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4148218
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page