ABCG5 c.1464-291G>C

Variant ID: 2-44047530-C-G

NM_022436.2(ABCG5):c.1464-291G>C

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules
Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E
Publication Date: 2019-11-29

Variant appearance in text: rs4148189
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00807.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: rs4148189
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN
Publication Date: 2016-01

Variant appearance in text: rs4148189
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Bmc Genetics
Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM
Publication Date: 2009-08-14

Variant appearance in text: rs4148189
PubMed Link: 19682384
Variant Present in the following documents:
View BVdb publication page



The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.

Journal Of Lipid Research
Junyent, Mireia M; Tucker, Katherine L KL; Smith, Caren E CE; Garcia-Rios, Antonio A; Mattei, Josiemer J; Lai, Chao-Qiang CQ; Parnell, Laurence D LD; Ordovas, Jose M JM
Publication Date: 2009-03

Variant appearance in text: rs4148189
PubMed Link: 19005228
Variant Present in the following documents:
  • Main text
View BVdb publication page