ABCA1 c.67-1950C>T

Variant ID: 9-107653426-G-A

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

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
Moon, Sanghoon S; Kim, Young Jin YJ; Han, Sohee S; Hwang, Mi Yeong MY; Shin, Dong Mun DM; Park, Min Young MY; Lu, Yontao Y; Yoon, Kyungheon K; Jang, Hye-Mi HM; Kim, Yun Kyoung YK; Park, Tae-Joon TJ; Song, Dae Sub DS; Park, Jae Kyung JK; Lee, Jong-Eun JE; Kim, Bong-Jo BJ
Publication Date: 2019-02-04

Variant appearance in text: rs12686004
PubMed Link: 30718733
Variant Present in the following documents:
  • 41598_2018_37832_MOESM1_ESM.pdf
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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
Moon, Sanghoon S; Lee, Young Y; Won, Sungho S; Lee, Juyoung J
Publication Date: 2018-11-01

Variant appearance in text: rs12686004
PubMed Link: 30382898
Variant Present in the following documents:
  • Main text
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Prediction of cholesterol ratios within a Korean population.

Royal Society Open Science
Lee, Jin Sol JS; Cheong, Hyun Sub HS; Shin, Hyoung Doo HD
Publication Date: 2018-01

Variant appearance in text: rs12686004
PubMed Link: 29410832
Variant Present in the following documents:
  • Main text
  • rsos171204.pdf
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On the analysis of a repeated measure design in genome-wide association analysis.

International Journal Of Environmental Research And Public Health
Lee, Young Y; Park, Suyeon S; Moon, Sanghoon S; Lee, Juyoung J; Elston, Robert C RC; Lee, Woojoo W; Won, Sungho S
Publication Date: 2014-11-28

Variant appearance in text: rs12686004
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
  • ijerph-11-12283.pdf
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A comparative encyclopedia of DNA elements in the mouse genome.

Nature
Yue, Feng F; Cheng, Yong Y; Breschi, Alessandra A; Vierstra, Jeff J; Wu, Weisheng W; Ryba, Tyrone T; Sandstrom, Richard R; Ma, Zhihai Z; Davis, Carrie C; Pope, Benjamin D BD; Shen, Yin Y; Pervouchine, Dmitri D DD; Djebali, Sarah S; Thurman, Robert E RE; Kaul, Rajinder R; Rynes, Eric E; Kirilusha, Anthony A; Marinov, Georgi K GK; Williams, Brian A BA; Trout, Diane D; Amrhein, Henry H; Fisher-Aylor, Katherine K; Antoshechkin, Igor I; DeSalvo, Gilberto G; See, Lei-Hoon LH; Fastuca, Meagan M; Drenkow, Jorg J; Zaleski, Chris C; Dobin, Alex A; Prieto, Pablo P; Lagarde, Julien J; Bussotti, Giovanni G; Tanzer, Andrea A; Denas, Olgert O; Li, Kanwei K; Bender, M A MA; Zhang, Miaohua M; Byron, Rachel R; Groudine, Mark T MT; McCleary, David D; Pham, Long L; Ye, Zhen Z; Kuan, Samantha S; Edsall, Lee L; Wu, Yi-Chieh YC; Rasmussen, Matthew D MD; Bansal, Mukul S MS; Kellis, Manolis M; Keller, Cheryl A CA; Morrissey, Christapher S CS; Mishra, Tejaswini T; Jain, Deepti D; Dogan, Nergiz N; Harris, Robert S RS; Cayting, Philip P; Kawli, Trupti T; Boyle, Alan P AP; Euskirchen, Ghia G; Kundaje, Anshul A; Lin, Shin S; Lin, Yiing Y; Jansen, Camden C; Malladi, Venkat S VS; Cline, Melissa S MS; Erickson, Drew T DT; Kirkup, Vanessa M VM; Learned, Katrina K; Sloan, Cricket A CA; Rosenbloom, Kate R KR; Lacerda de Sousa, Beatriz B; Beal, Kathryn K; Pignatelli, Miguel M; Flicek, Paul P; Lian, Jin J; Kahveci, Tamer T; Lee, Dongwon D; Kent, W James WJ; Ramalho Santos, Miguel M; Herrero, Javier J; Notredame, Cedric C; Johnson, Audra A; Vong, Shinny S; Lee, Kristen K; Bates, Daniel D; Neri, Fidencio F; Diegel, Morgan M; Canfield, Theresa T; Sabo, Peter J PJ; Wilken, Matthew S MS; Reh, Thomas A TA; Giste, Erika E; Shafer, Anthony A; Kutyavin, Tanya T; Haugen, Eric E; Dunn, Douglas D; Reynolds, Alex P AP; Neph, Shane S; Humbert, Richard R; Hansen, R Scott RS; De Bruijn, Marella M; Selleri, Licia L; Rudensky, Alexander A; Josefowicz, Steven S; Samstein, Robert R; Eichler, Evan E EE; Orkin, Stuart H SH; Levasseur, Dana D; Papayannopoulou, Thalia T; Chang, Kai-Hsin KH; Skoultchi, Arthur A; Gosh, Srikanta S; Disteche, Christine C; Treuting, Piper P; Wang, Yanli Y; Weiss, Mitchell J MJ; Blobel, Gerd A GA; Cao, Xiaoyi X; Zhong, Sheng S; Wang, Ting T; Good, Peter J PJ; Lowdon, Rebecca F RF; Adams, Leslie B LB; Zhou, Xiao-Qiao XQ; Pazin, Michael J MJ; Feingold, Elise A EA; Wold, Barbara B; Taylor, James J; Mortazavi, Ali A; Weissman, Sherman M SM; Stamatoyannopoulos, John A JA; Snyder, Michael P MP; Guigo, Roderic R; Gingeras, Thomas R TR; Gilbert, David M DM; Hardison, Ross C RC; Beer, Michael A MA; Ren, Bing B; ,
Publication Date: 2014-11-20

Variant appearance in text: rs12686004
PubMed Link: 25409824
Variant Present in the following documents:
  • Main text
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Effect of genetic predisposition on blood lipid traits using cumulative risk assessment in the korean population.

Genomics & Informatics
Go, Min Jin MJ; Hwang, Joo-Yeon JY; Kim, Dong-Joon DJ; Lee, Hye-Ja HJ; Jang, Han Byul HB; Park, Kyung-Hee KH; Song, Jihyun J; Lee, Jong-Young JY
Publication Date: 2012-06

Variant appearance in text: rs12686004
PubMed Link: 23105936
Variant Present in the following documents:
  • Main text
  • gni-10-99.pdf
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Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Plos One
Jones, Lesley L; Holmans, Peter A PA; Hamshere, Marian L ML; Harold, Denise D; Moskvina, Valentina V; Ivanov, Dobril D; Pocklington, Andrew A; Abraham, Richard R; Hollingworth, Paul P; Sims, Rebecca R; Gerrish, Amy A; Pahwa, Jaspreet Singh JS; Jones, Nicola N; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Schürmann, Britta B; Heun, Reinhard R; Kölsch, Heike H; van den Bussche, Hendrik H; Heuser, Isabella I; Peters, Oliver O; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panos P; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Rüther, Eckhard E; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Hardy, John J; O'Donovan, Michael C MC; Owen, Michael J MJ; Williams, Julie J
Publication Date: 2010-11-15

Variant appearance in text: rs12686004
PubMed Link: 21085570
Variant Present in the following documents:
  • Main text
  • pone.0013950.pdf
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The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration.

Biochimica Et Biophysica Acta
Koldamova, Radosveta R; Fitz, Nicholas F NF; Lefterov, Iliya I
Publication Date: 2010-08

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