Variant ID: 9-107653426-G-A

NM_005502.3(ABCA1):c.67-1950C>T

This variant was identified in 15 publications




Publications:


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: rs12686004
PubMed Link: 30382898
Variant Present in the following documents:
  • 40246_2018_180_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Prediction of cholesterol ratios within a Korean population.

Royal Society Open Science
JS Lee, HS Cheong, HD Shin
Publication Date: 2018-01

Variant appearance in text: rs12686004
PubMed Link: 29410832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: rs12686004
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



Genetics of pleiotropic effects of dexamethasone.

Pharmacogenetics And Genomics
LB Ramsey, S Pounds, C Cheng, X Cao, W Yang, C Smith, SE Karol, C Liu, JC Panetta, H Inaba, JE Rubnitz, ML Metzger, RC Ribeiro, JT Sandlund, S Jeha, CH Pui, WE Evans, MV Relling
Publication Date: 2017-08

Variant appearance in text: rs12686004
PubMed Link: 28628558
Variant Present in the following documents:
  • NIHMS880776-supplement-Supplemental_Digital_Content_Table_3.xlsx
View BVdb publication page



Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

Journal Of Cellular And Molecular Medicine
Y Zhu, D Zhang, D Zhou, Z Li, Z Li, L Fang, M Yang, Z Shan, H Li, J Chen, X Zhou, W Ye, S Yu, H Li, L Cai, C Liu, J Zhang, L Wang, Y Lai, L Ruan, Z Sun, S Zhang, H Wang, Y Liu, Y Xu, J Ling, C Xu, Y Zhang, D Lv, Z Yuan, J Zhang, Y Zhang, Y Shi, M Lai
Publication Date: 2017-06

Variant appearance in text: rs12686004
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European Journal Of Human Genetics : Ejhg
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
Publication Date: 2016-04

Variant appearance in text: rs12686004
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



On the analysis of a repeated measure design in genome-wide association analysis.

International Journal Of Environmental Research And Public Health
Y Lee, S Park, S Moon, J Lee, RC Elston, W Lee, S Won
Publication Date: 2014-11-28

Variant appearance in text: rs12686004
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comparative encyclopedia of DNA elements in the mouse genome.

Nature
F Yue, Y Cheng, A Breschi, J Vierstra, W Wu, T Ryba, R Sandstrom, Z Ma, C Davis, BD Pope, Y Shen, DD Pervouchine, S Djebali, RE Thurman, R Kaul, E Rynes, A Kirilusha, GK Marinov, BA Williams, D Trout, H Amrhein, K Fisher-Aylor, I Antoshechkin, G DeSalvo, LH See, M Fastuca, J Drenkow, C Zaleski, A Dobin, P Prieto, J Lagarde, G Bussotti, A Tanzer, O Denas, K Li, MA Bender, M Zhang, R Byron, MT Groudine, D McCleary, L Pham, Z Ye, S Kuan, L Edsall, YC Wu, MD Rasmussen, MS Bansal, M Kellis, CA Keller, CS Morrissey, T Mishra, D Jain, N Dogan, RS Harris, P Cayting, T Kawli, AP Boyle, G Euskirchen, A Kundaje, S Lin, Y Lin, C Jansen, VS Malladi, MS Cline, DT Erickson, VM Kirkup, K Learned, CA Sloan, KR Rosenbloom, B Lacerda de Sousa, K Beal, M Pignatelli, P Flicek, J Lian, T Kahveci, D Lee, WJ Kent, M Ramalho Santos, J Herrero, C Notredame, A Johnson, S Vong, K Lee, D Bates, F Neri, M Diegel, T Canfield, PJ Sabo, MS Wilken, TA Reh, E Giste, A Shafer, T Kutyavin, E Haugen, D Dunn, AP Reynolds, S Neph, R Humbert, RS Hansen, M De Bruijn, L Selleri, A Rudensky, S Josefowicz, R Samstein, EE Eichler, SH Orkin, D Levasseur, T Papayannopoulou, KH Chang, A Skoultchi, S Gosh, C Disteche, P Treuting, Y Wang, MJ Weiss, GA Blobel, X Cao, S Zhong, T Wang, PJ Good, RF Lowdon, LB Adams, XQ Zhou, MJ Pazin, EA Feingold, B Wold, J Taylor, A Mortazavi, SM Weissman, JA Stamatoyannopoulos, MP Snyder, R Guigo, TR Gingeras, DM Gilbert, RC Hardison, MA Beer, B Ren,
Publication Date: 2014-11-20

Variant appearance in text: rs12686004
PubMed Link: 25409824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
BP Fairfax, P Humburg, S Makino, V Naranbhai, D Wong, E Lau, L Jostins, K Plant, R Andrews, C McGee, JC Knight
Publication Date: 2014-03-07

Variant appearance in text: rs12686004
PubMed Link: 24604202
Variant Present in the following documents:
  • NIHMS58422-supplement-Table_S6.xls
View BVdb publication page



High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients.

Oncotarget
M Delord, P Rousselot, JM Cayuela, F Sigaux, J Guilhot, C Preudhomme, F Guilhot, P Loiseau, E Raffoux, D Geromin, E Génin, F Calvo, H Bruzzoni-Giovanelli
Publication Date: 2013-10

Variant appearance in text: rs12686004
PubMed Link: 24123600
Variant Present in the following documents:
  • oncotarget-04-1582-s001.doc
View BVdb publication page



Effect of genetic predisposition on blood lipid traits using cumulative risk assessment in the korean population.

Genomics & Informatics
MJ Go, JY Hwang, DJ Kim, HJ Lee, HB Jang, KH Park, J Song, JY Lee
Publication Date: 2012-06

Variant appearance in text: rs12686004
PubMed Link: 23105936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: rs12686004
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc7.xls
View BVdb publication page



A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes.

Journal Of Data Mining In Genomics & Proteomics
YC Lee, CQ Lai, JM Ordovas, LD Parnell
Publication Date: 2011-01-01

Variant appearance in text: rs12686004
PubMed Link: 22328972
Variant Present in the following documents:
  • NIHMS285264-supplement-Supplementary_Tables.xls
View BVdb publication page



Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Plos One
L Jones, PA Holmans, ML Hamshere, D Harold, V Moskvina, D Ivanov, A Pocklington, R Abraham, P Hollingworth, R Sims, A Gerrish, JS Pahwa, N Jones, A Stretton, AR Morgan, S Lovestone, J Powell, P Proitsi, MK Lupton, C Brayne, DC Rubinsztein, M Gill, B Lawlor, A Lynch, K Morgan, KS Brown, PA Passmore, D Craig, B McGuinness, S Todd, C Holmes, D Mann, AD Smith, S Love, PG Kehoe, S Mead, N Fox, M Rossor, J Collinge, W Maier, F Jessen, B Schürmann, R Heun, H Kölsch, H van den Bussche, I Heuser, O Peters, J Kornhuber, J Wiltfang, M Dichgans, L Frölich, H Hampel, M Hüll, D Rujescu, AM Goate, JS Kauwe, C Cruchaga, P Nowotny, JC Morris, K Mayo, G Livingston, NJ Bass, H Gurling, A McQuillin, R Gwilliam, P Deloukas, A Al-Chalabi, CE Shaw, AB Singleton, R Guerreiro, TW Mühleisen, MM Nöthen, S Moebus, KH Jöckel, N Klopp, HE Wichmann, E Rüther, MM Carrasquillo, VS Pankratz, SG Younkin, J Hardy, MC O'Donovan, MJ Owen, J Williams
Publication Date: 2010-11-15

Variant appearance in text: rs12686004
PubMed Link: 21085570
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration.

Biochimica Et Biophysica Acta
R Koldamova, NF Fitz, I Lefterov
Publication Date: 2010-08

Variant appearance in text: rs12686004
PubMed Link: 20188211
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374733.1 c.-114-1950C>T - intron_variant - 1/4
ENST00000374736.3 c.67-1950C>T - intron_variant - 2/49
ENST00000423487.2 c.67-1950C>T - intron_variant - 2/7
NM_005502.4 c.67-1950C>T - intron_variant - 2/49