Variant ID: 9-107657070-G-A

NM_005502.3(ABCA1):c.67-5594C>T

This variant was identified in 16 publications




Publications:


Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang
Publication Date: 2019

Variant appearance in text: rs3905000
PMID: 31039173
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Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics
S Moon, Y Lee, S Won, J Lee
Publication Date: 2018-11-01

Variant appearance in text: rs3905000
PMID: 30382898
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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: rs3905000
PMID: 28577571
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: rs3905000
PMID: 27466198
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Polymorphisms in ABC transporter genes and concentrations of mercury in newborns--evidence from two Mediterranean birth cohorts.

Plos One
S Llop, K Engström, F Ballester, E Franforte, A Alhamdow, F Pisa, JS Tratnik, D Mazej, M Murcia, M Rebagliato, M Bustamante, J Sunyer, A Sofianou-Katsoulis, A Prasouli, E Antonopoulou, I Antoniadou, S Nakou, F Barbone, M Horvat, K Broberg
Publication Date: 2014

Variant appearance in text: rs3905000
PMID: 24831289
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Pathway-based analysis using genome-wide association data from a Korean non-small cell lung cancer study.

Plos One
D Lee, GK Lee, KA Yoon, JS Lee
Publication Date: 2013

Variant appearance in text: rs3905000
PMID: 23762359
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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
GJ McKay, DA Savage, CC Patterson, G Lewis, AJ McKnight, AP Maxwell,
Publication Date: 2013

Variant appearance in text: rs3905000
PMID: 23555584
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: rs3905000
PMID: 21860704
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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
G Lettre, CD Palmer, T Young, KG Ejebe, H Allayee, EJ Benjamin, F Bennett, DW Bowden, A Chakravarti, A Dreisbach, DN Farlow, AR Folsom, M Fornage, T Forrester, E Fox, CA Haiman, J Hartiala, TB Harris, SL Hazen, SR Heckbert, BE Henderson, JN Hirschhorn, BJ Keating, SB Kritchevsky, E Larkin, M Li, ME Rudock, CA McKenzie, JB Meigs, YA Meng, TH Mosley, AB Newman, CH Newton-Cheh, DN Paltoo, GJ Papanicolaou, N Patterson, WS Post, BM Psaty, AN Qasim, L Qu, DJ Rader, S Redline, MP Reilly, AP Reiner, SS Rich, JI Rotter, Y Liu, P Shrader, DS Siscovick, WH Tang, HA Taylor, RP Tracy, RS Vasan, KM Waters, R Wilks, JG Wilson, RR Fabsitz, SB Gabriel, S Kathiresan, E Boerwinkle
Publication Date: 2011-02-10

Variant appearance in text: rs3905000
PMID: 21347282
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs3905000
PMID: 20876667
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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
T Zeller, P Wild, S Szymczak, M Rotival, A Schillert, R Castagne, S Maouche, M Germain, K Lackner, H Rossmann, M Eleftheriadis, CR Sinning, RB Schnabel, E Lubos, D Mennerich, W Rust, C Perret, C Proust, V Nicaud, J Loscalzo, N Hübner, D Tregouet, T Münzel, A Ziegler, L Tiret, S Blankenberg, F Cambien
Publication Date: 2010-05-18

Variant appearance in text: rs3905000
PMID: 20502693
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Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
D Weissglas-Volkov, P Pajukanta
Publication Date: 2010-08

Variant appearance in text: rs3905000
PMID: 20421590
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The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
Publication Date: 2010-06

Variant appearance in text: rs3905000
PMID: 20406164
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Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
J Ronald, R Rajagopalan, JE Ranchalis, JK Marshall, TS Hatsukami, PJ Heagerty, GP Jarvik
Publication Date: 2009-12-01

Variant appearance in text: rs3905000
PMID: 19951432
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
YS Aulchenko, S Ripatti, I Lindqvist, D Boomsma, IM Heid, PP Pramstaller, BW Penninx, AC Janssens, JF Wilson, T Spector, NG Martin, NL Pedersen, KO Kyvik, J Kaprio, A Hofman, NB Freimer, MR Jarvelin, U Gyllensten, H Campbell, I Rudan, A Johansson, F Marroni, C Hayward, V Vitart, I Jonasson, C Pattaro, A Wright, N Hastie, I Pichler, AA Hicks, M Falchi, G Willemsen, JJ Hottenga, EJ de Geus, GW Montgomery, J Whitfield, P Magnusson, J Saharinen, M Perola, K Silander, A Isaacs, EJ Sijbrands, AG Uitterlinden, JC Witteman, BA Oostra, P Elliott, A Ruokonen, C Sabatti, C Gieger, T Meitinger, F Kronenberg, A Döring, HE Wichmann, JH Smit, MI McCarthy, CM van Duijn, L Peltonen,
Publication Date: 2009-01

Variant appearance in text: rs3905000
PMID: 19060911
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: rs3905000
PMID: 19041386
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374733.1 c.-114-5594C>T - intron_variant - 1/4
ENST00000374736.3 c.67-5594C>T - intron_variant - 2/49
ENST00000423487.2 c.67-5594C>T - intron_variant - 2/7
NM_005502.4 c.67-5594C>T - intron_variant - 2/49