ABCG5 c.148C>A ;(p.R50S)

Variant ID: 2-44065090-G-T

NM_022436.2(ABCG5):c.148C>A;(p.R50S)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs6756629
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11

Variant appearance in text: rs6756629
PubMed Link: 36098472
Variant Present in the following documents:
  • HEP4-6-3120-s001.xlsx, sheet 7
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A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Orphanet Journal Of Rare Diseases
Mandato, Claudia C; Siano, Maria Anna MA; Nazzaro, Lucia L; Gelzo, Monica M; Francalanci, Paola P; Rizzo, Francesca F; D'Agostino, Ylenia Y; Morleo, Manuela M; Brillante, Simona S; Weisz, Alessandro A; Franco, Brunella B; Vajro, Pietro P
Publication Date: 2021-04-14

Variant appearance in text: rs6756629
PubMed Link: 33853651
Variant Present in the following documents:
  • Main text
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Revealing the Role of High-Density Lipoprotein in Colorectal Cancer.

International Journal Of Molecular Sciences
Zeljkovic, Aleksandra A; Vekic, Jelena J; Mihajlovic, Marija M; Gojkovic, Tamara T; Vladimirov, Sandra S; Zeljkovic, Dejan D; Spasojevic-Kalimanovska, Vesna V; Trifunovic, Bratislav B
Publication Date: 2021-03-25

Variant appearance in text: rs6756629
PubMed Link: 33805921
Variant Present in the following documents:
  • Main text
  • ijms-22-03352.pdf
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Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Publication Date: 2021-02-05

Variant appearance in text: rs6756629
PubMed Link: 33547301
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20870.pdf
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Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes.

Molecular Biology And Evolution
Ávila-Arcos, María C MC; McManus, Kimberly F KF; Sandoval, Karla K; Rodríguez-Rodríguez, Juan Esteban JE; Villa-Islas, Viridiana V; Martin, Alicia R AR; Luisi, Pierre P; Peñaloza-Espinosa, Rosenda I RI; Eng, Celeste C; Huntsman, Scott S; Burchard, Esteban G EG; Gignoux, Christopher R CR; Bustamante, Carlos D CD; Moreno-Estrada, Andrés A
Publication Date: 2020-04-01

Variant appearance in text: rs6756629
PubMed Link: 31848607
Variant Present in the following documents:
  • Main text
  • msz282.pdf
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SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
Publication Date: 2019-03

Variant appearance in text: rs6756629
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs6756629
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs6756629
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
Christie, Shanice S; Robiou-du-Pont, Sébastien S; Anand, Sonia S SS; Morrison, Katherine M KM; McDonald, Sarah D SD; Paré, Guillaume G; Atkinson, Stephanie A SA; Teo, Koon K KK; Meyre, David D
Publication Date: 2017-03-06

Variant appearance in text: rs6756629
PubMed Link: 28250428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Experimental And Therapeutic Medicine
Deng, Mei M; Mao, Man M; Guo, Li L; Chen, Feng-Ping FP; Wen, Wang-Rong WR; Song, Yuan-Zong YZ
Publication Date: 2016-11

Variant appearance in text: rs6756629
PubMed Link: 27882152
Variant Present in the following documents:
  • etm-12-05-3294.pdf
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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCG5: R50S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs6756629
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
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Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

Nature Communications
Kettunen, Johannes J; Demirkan, Ayşe A; Würtz, Peter P; Draisma, Harmen H M HH; Haller, Toomas T; Rawal, Rajesh R; Vaarhorst, Anika A; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Pirinen, Matti M; Pool, René R; Sarin, Antti-Pekka AP; Soininen, Pasi P; Tukiainen, Taru T; Wang, Qin Q; Tiainen, Mika M; Tynkkynen, Tuulia T; Amin, Najaf N; Zeller, Tanja T; Beekman, Marian M; Deelen, Joris J; van Dijk, Ko Willems KW; Esko, Tõnu T; Hottenga, Jouke-Jan JJ; van Leeuwen, Elisabeth M EM; Lehtimäki, Terho T; Mihailov, Evelin E; Rose, Richard J RJ; de Craen, Anton J M AJ; Gieger, Christian C; Kähönen, Mika M; Perola, Markus M; Blankenberg, Stefan S; Savolainen, Markku J MJ; Verhoeven, Aswin A; Viikari, Jorma J; Willemsen, Gonneke G; Boomsma, Dorret I DI; van Duijn, Cornelia M CM; Eriksson, Johan J; Jula, Antti A; Järvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Metspalu, Andres A; Raitakari, Olli O; Salomaa, Veikko V; Slagboom, P Eline PE; Waldenberger, Melanie M; Ripatti, Samuli S; Ala-Korpela, Mika M
Publication Date: 2016-03-23

Variant appearance in text: rs6756629
PubMed Link: 27005778
Variant Present in the following documents:
  • ncomms11122-s1.pdf
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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data
John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O
Publication Date: 2015-03

Variant appearance in text: rs6756629
PubMed Link: 26484159
Variant Present in the following documents:
  • Main text
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: rs6756629
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics
Thareja, Gaurav G; John, Sumi Elsa SE; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O
Publication Date: 2015-02-18

Variant appearance in text: rs6756629
PubMed Link: 25765185
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1233.pdf
View BVdb publication page



A genome-wide pleiotropy scan for prostate cancer risk.

European Urology
Panagiotou, Orestis A OA; Travis, Ruth C RC; Campa, Daniele D; Berndt, Sonja I SI; Lindstrom, Sara S; Kraft, Peter P; Schumacher, Fredrick R FR; Siddiq, Afshan A; Papatheodorou, Stefania I SI; Stanford, Janet L JL; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie J SJ; Diver, W Ryan WR; Gapstur, Susan M SM; Stevens, Victoria L VL; Boeing, Heiner H; Bueno-de-Mesquita, H Bas HB; Barricarte Gurrea, Aurelio A; Kaaks, Rudolf R; Khaw, Kay-Tee KT; Krogh, Vittorio V; Overvad, Kim K; Riboli, Elio E; Trichopoulos, Dimitrios D; Giovannucci, Edward E; Stampfer, Meir M; Haiman, Christopher C; Henderson, Brian B; Le Marchand, Loic L; Gaziano, J Michael JM; Hunter, David J DJ; Koutros, Stella S; Yeager, Meredith M; Hoover, Robert N RN; , ; Chanock, Stephen J SJ; Wacholder, Sholom S; Key, Timothy J TJ; Tsilidis, Konstantinos K KK
Publication Date: 2015-04

Variant appearance in text: rs6756629
PubMed Link: 25277271
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs6756629
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Publication Date: 2014-01

Variant appearance in text: rs6756629
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
  • pgen.1004147.pdf
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Non-cholesterol sterol levels predict hyperglycemia and conversion to type 2 diabetes in Finnish men.

Plos One
Cederberg, Henna H; Gylling, Helena H; Miettinen, Tatu A TA; Paananen, Jussi J; Vangipurapu, Jagadish J; Pihlajamäki, Jussi J; Kuulasmaa, Teemu T; Stančáková, Alena A; Smith, Ulf U; Kuusisto, Johanna J; Laakso, Markku M
Publication Date: 2013

Variant appearance in text: rs6756629
PubMed Link: 23840693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
McKay, Gareth J GJ; Savage, David A DA; Patterson, Christopher C CC; Lewis, Gareth G; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; ,
Publication Date: 2013

Variant appearance in text: rs6756629
PubMed Link: 23555584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal Of Investigative Dermatology
Lu, Yingchang Y; Chen, Haoyan H; Nikamo, Pernilla P; Qi Low, Hui H; Helms, Cynthia C; Seielstad, Mark M; Liu, Jianjun J; Bowcock, Anne M AM; Stahle, Mona M; Liao, Wilson W
Publication Date: 2013-03

Variant appearance in text: rs6756629
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
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Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.

Atherosclerosis
Shirts, Brian H BH; Howard, Michael T MT; Hasstedt, Sandra J SJ; Nanjee, M Nazeem MN; Knight, Stacey S; Carlquist, John F JF; Anderson, Jeffrey L JL; Hopkins, Paul N PN; Hunt, Steven C SC
Publication Date: 2012-05

Variant appearance in text: rs6756629
PubMed Link: 22425169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs6756629
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent.

Atherosclerosis
Shirts, Brian H BH; Hasstedt, Sandra J SJ; Hopkins, Paul N PN; Hunt, Steven C SC
Publication Date: 2011-07

Variant appearance in text: rs6756629
PubMed Link: 21466885
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ABCG family of membrane-associated transporters: you don't have to be big to be mighty.

British Journal Of Pharmacology
Kerr, Ian D ID; Haider, Ameena J AJ; Gelissen, Ingrid C IC
Publication Date: 2011-12

Variant appearance in text: rs6756629
PubMed Link: 21175590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
Zeller, Tanja T; Wild, Philipp P; Szymczak, Silke S; Rotival, Maxime M; Schillert, Arne A; Castagne, Raphaele R; Maouche, Seraya S; Germain, Marine M; Lackner, Karl K; Rossmann, Heidi H; Eleftheriadis, Medea M; Sinning, Christoph R CR; Schnabel, Renate B RB; Lubos, Edith E; Mennerich, Detlev D; Rust, Werner W; Perret, Claire C; Proust, Carole C; Nicaud, Viviane V; Loscalzo, Joseph J; Hübner, Norbert N; Tregouet, David D; Münzel, Thomas T; Ziegler, Andreas A; Tiret, Laurence L; Blankenberg, Stefan S; Cambien, François F
Publication Date: 2010-05-18

Variant appearance in text: rs6756629
PubMed Link: 20502693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Publication Date: 2009-12-01

Variant appearance in text: rs6756629
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
  • 1476-511X-8-52.pdf
View BVdb publication page



Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq.

Genome Biology
Motallebipour, Mehdi M; Ameur, Adam A; Reddy Bysani, Madhu Sudhan MS; Patra, Kalicharan K; Wallerman, Ola O; Mangion, Jonathan J; Barker, Melissa A MA; McKernan, Kevin J KJ; Komorowski, Jan J; Wadelius, Claes C
Publication Date: 2009

Variant appearance in text: rs6756629
PubMed Link: 19919681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hindorff, Lucia A LA; Sethupathy, Praveen P; Junkins, Heather A HA; Ramos, Erin M EM; Mehta, Jayashri P JP; Collins, Francis S FS; Manolio, Teri A TA
Publication Date: 2009-06-09

Variant appearance in text: rs6756629
PubMed Link: 19474294
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
Aulchenko, Yurii S YS; Ripatti, Samuli S; Lindqvist, Ida I; Boomsma, Dorret D; Heid, Iris M IM; Pramstaller, Peter P PP; Penninx, Brenda W J H BW; Janssens, A Cecile J W AC; Wilson, James F JF; Spector, Tim T; Martin, Nicholas G NG; Pedersen, Nancy L NL; Kyvik, Kirsten Ohm KO; Kaprio, Jaakko J; Hofman, Albert A; Freimer, Nelson B NB; Jarvelin, Marjo-Riitta MR; Gyllensten, Ulf U; Campbell, Harry H; Rudan, Igor I; Johansson, Asa A; Marroni, Fabio F; Hayward, Caroline C; Vitart, Veronique V; Jonasson, Inger I; Pattaro, Cristian C; Wright, Alan A; Hastie, Nick N; Pichler, Irene I; Hicks, Andrew A AA; Falchi, Mario M; Willemsen, Gonneke G; Hottenga, Jouke-Jan JJ; de Geus, Eco J C EJ; Montgomery, Grant W GW; Whitfield, John J; Magnusson, Patrik P; Saharinen, Juha J; Perola, Markus M; Silander, Kaisa K; Isaacs, Aaron A; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Witteman, Jacqueline C M JC; Oostra, Ben A BA; Elliott, Paul P; Ruokonen, Aimo A; Sabatti, Chiara C; Gieger, Christian C; Meitinger, Thomas T; Kronenberg, Florian F; Döring, Angela A; Wichmann, H-Erich HE; Smit, Johannes H JH; McCarthy, Mark I MI; van Duijn, Cornelia M CM; Peltonen, Leena L; ,
Publication Date: 2009-01

Variant appearance in text: rs6756629
PubMed Link: 19060911
Variant Present in the following documents:
  • Main text
View BVdb publication page