ABCA1 c.3241+118T>A

Variant ID: 9-107581749-A-T

NM_005502.3(ABCA1):c.3241+118T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2254884
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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: rs2254884
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Evaluation of Adenosine Triphosphate-Binding Cassette Transporter A1 (ABCA1) R219K and C-Reactive Protein Gene (CRP) +1059G/C Gene Polymorphisms in Susceptibility to Coronary Heart Disease.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Li, Jing-Fang JF; Peng, Dian-Ying DY; Ling, Mei M; Yin, Yong Y
Publication Date: 2016-08-25

Variant appearance in text: rs2254884
PubMed Link: 27560308
Variant Present in the following documents:
  • medscimonit-22-2999.pdf
View BVdb publication page



Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS).

Investigative Ophthalmology & Visual Science
Meyers, Kristin J KJ; Mares, Julie A JA; Igo, Robert P RP; Truitt, Barbara B; Liu, Zhe Z; Millen, Amy E AE; Klein, Michael M; Johnson, Elizabeth J EJ; Engelman, Corinne D CD; Karki, Chitra K CK; Blodi, Barbara B; Gehrs, Karen K; Tinker, Lesley L; Wallace, Robert R; Robinson, Jennifer J; LeBlanc, Erin S ES; Sarto, Gloria G; Bernstein, Paul S PS; SanGiovanni, John Paul JP; Iyengar, Sudha K SK
Publication Date: 2014-01-29

Variant appearance in text: rs2254884
PubMed Link: 24346170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.

Plos Genetics
Andreassen, Ole A OA; Thompson, Wesley K WK; Schork, Andrew J AJ; Ripke, Stephan S; Mattingsdal, Morten M; Kelsoe, John R JR; Kendler, Kenneth S KS; O'Donovan, Michael C MC; Rujescu, Dan D; Werge, Thomas T; Sklar, Pamela P; , ; , ; Roddey, J Cooper JC; Chen, Chi-Hua CH; McEvoy, Linda L; Desikan, Rahul S RS; Djurovic, Srdjan S; Dale, Anders M AM
Publication Date: 2013-04

Variant appearance in text: rs2254884
PubMed Link: 23637625
Variant Present in the following documents:
  • Main text
  • pgen.1003455.pdf
View BVdb publication page