Variant ID: 2-27743154-A-G

NM_001486.3(GCKR):c.1572+1350A>G

This variant was identified in 35 publications




Publications:


Genome-wide association study of metabolic syndrome in Korean populations.

Plos One
SW Oh, JE Lee, E Shin, H Kwon, EK Choe, SY Choi, H Rhee, SH Choi
Publication Date: 2020

Variant appearance in text: rs780092
PubMed Link: 31910446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.

Genes & Genomics
D Li, H Kang, S Lee, S Won
Publication Date: 2020-04

Variant appearance in text: rs780092
PubMed Link: 31902109
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

Nature Communications
R Pazoki, E Evangelou, D Mosen-Ansorena, RC Pinto, I Karaman, P Blakeley, D Gill, V Zuber, P Elliott, I Tzoulaki, A Dehghan
Publication Date: 2019-08-13

Variant appearance in text: rs780092
PubMed Link: 31409800
Variant Present in the following documents:
  • 41467_2019_11451_MOESM19_ESM.xlsx
  • 41467_2019_11451_MOESM3_ESM.xlsx
  • 41467_2019_11451_MOESM5_ESM.xlsx
  • 41467_2019_11451_MOESM9_ESM.xlsx
View BVdb publication page



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: rs780092
PubMed Link: 30382898
Variant Present in the following documents:
  • 40246_2018_180_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression.

Translational Psychiatry
RJ Strawbridge, J Ward, LM Lyall, EM Tunbridge, B Cullen, N Graham, A Ferguson, KJA Johnston, DM Lyall, D Mackay, J Cavanagh, DM Howard, MJ Adams, I Deary, V Escott-Price, M O'Donovan, AM McIntosh, MES Bailey, JP Pell, PJ Harrison, DJ Smith
Publication Date: 2018-09-04

Variant appearance in text: rs780092
PubMed Link: 30181555
Variant Present in the following documents:
  • 41398_2018_236_MOESM25_ESM.docx
View BVdb publication page



The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.

Molecular Metabolism
J Hebebrand, T Peters, D Schijven, M Hebebrand, C Grasemann, TW Winkler, IM Heid, J Antel, M Föcker, L Tegeler, L Brauner, RAH Adan, JJ Luykx, CU Correll, IR König, A Hinney, L Libuda
Publication Date: 2018-06

Variant appearance in text: rs780092
PubMed Link: 29673576
Variant Present in the following documents:
  • mmc1.xlsx
View BVdb publication page



New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Scientific Reports
HS Lee, Y Kim, T Park
Publication Date: 2018-04-09

Variant appearance in text: rs780092
PubMed Link: 29632305
Variant Present in the following documents:
  • 41598_2018_23074_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

Aging
AM Kulminski, J Huang, Y Loika, KG Arbeev, O Bagley, A Yashkin, M Duan, I Culminskaya
Publication Date: 2018-03-29

Variant appearance in text: rs780092
PubMed Link: 29615537
Variant Present in the following documents:
  • aging-10-101407-s001.pdf
  • aging-10-101407-s002.xlsx
View BVdb publication page



PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
A Verma, A Lucas, SS Verma, Y Zhang, N Josyula, A Khan, DN Hartzel, DR Lavage, J Leader, MD Ritchie, SA Pendergrass
Publication Date: 2018-04-05

Variant appearance in text: rs780092
PubMed Link: 29606303
Variant Present in the following documents:
  • mmc2.xlsx
View BVdb publication page



Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

Peerj
A Andaleon, LS Mogil, HE Wheeler
Publication Date: 2018

Variant appearance in text: rs780092
PubMed Link: 29404214
Variant Present in the following documents:
  • peerj-06-4314-s001.xlsx
View BVdb publication page



Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

Plos One
T Kawaguchi, T Shima, M Mizuno, Y Mitsumoto, A Umemura, Y Kanbara, S Tanaka, Y Sumida, K Yasui, M Takahashi, K Matsuo, Y Itoh, K Tokushige, E Hashimoto, K Kiyosawa, M Kawaguchi, H Itoh, H Uto, Y Komorizono, K Shirabe, S Takami, T Takamura, M Kawanaka, R Yamada, F Matsuda, T Okanoue
Publication Date: 2018

Variant appearance in text: rs780092
PubMed Link: 29385134
Variant Present in the following documents:
  • pone.0185490.s004.docx
View BVdb publication page



Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Nature Communications
S Bonàs-Guarch, M Guindo-Martínez, I Miguel-Escalada, N Grarup, D Sebastian, E Rodriguez-Fos, F Sánchez, M Planas-Fèlix, P Cortes-Sánchez, S González, P Timshel, TH Pers, CC Morgan, I Moran, G Atla, JR González, M Puiggros, J Martí, EA Andersson, C Díaz, RM Badia, M Udler, A Leong, V Kaur, J Flannick, T Jørgensen, A Linneberg, ME Jørgensen, DR Witte, C Christensen, I Brandslund, EV Appel, RA Scott, J Luan, C Langenberg, NJ Wareham, O Pedersen, A Zorzano, JC Florez, T Hansen, J Ferrer, JM Mercader, D Torrents
Publication Date: 2018-01-22

Variant appearance in text: rs780092
PubMed Link: 29358691
Variant Present in the following documents:
  • 41467_2017_2380_MOESM14_ESM.xlsx
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: rs780092
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



T2DiACoD: A Gene Atlas of Type 2 Diabetes Mellitus Associated Complex Disorders.

Scientific Reports
J Rani, I Mittal, A Pramanik, N Singh, N Dube, S Sharma, BL Puniya, MV Raghunandanan, A Mobeen, S Ramachandran
Publication Date: 2017-07-31

Variant appearance in text: rs780092
PubMed Link: 28761062
Variant Present in the following documents:
  • 41598_2017_7238_MOESM1_ESM.doc
View BVdb publication page



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: rs780092
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
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: rs780092
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

American Journal Of Human Genetics
M Civelek, Y Wu, C Pan, CK Raulerson, A Ko, A He, C Tilford, NK Saleem, A Stančáková, LJ Scott, C Fuchsberger, HM Stringham, AU Jackson, N Narisu, PS Chines, KS Small, J Kuusisto, BW Parks, P Pajukanta, T Kirchgessner, FS Collins, PS Gargalovic, M Boehnke, M Laakso, KL Mohlke, AJ Lusis
Publication Date: 2017-03-02

Variant appearance in text: rs780092
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



The ADAMTS9 gene is associated with cognitive aging in the elderly in a Taiwanese population.

Plos One
E Lin, SJ Tsai, PH Kuo, YL Liu, AC Yang, CF Kao, CH Yang
Publication Date: 2017

Variant appearance in text: rs780092
PubMed Link: 28225792
Variant Present in the following documents:
  • pone.0172440.s001.doc
  • pone.0172440.s002.doc
  • pone.0172440.s003.doc
View BVdb publication page



KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.

Proceedings Of The National Academy Of Sciences Of The United States Of America
G Schumann, C Liu, P O'Reilly, H Gao, P Song, B Xu, B Ruggeri, N Amin, T Jia, S Preis, M Segura Lepe, S Akira, C Barbieri, S Baumeister, S Cauchi, TK Clarke, S Enroth, K Fischer, J Hällfors, SE Harris, S Hieber, E Hofer, JJ Hottenga, Å Johansson, PK Joshi, N Kaartinen, J Laitinen, R Lemaitre, A Loukola, J Luan, LP Lyytikäinen, M Mangino, A Manichaikul, H Mbarek, Y Milaneschi, A Moayyeri, K Mukamal, C Nelson, J Nettleton, E Partinen, R Rawal, A Robino, L Rose, C Sala, T Satoh, R Schmidt, K Schraut, R Scott, AV Smith, JM Starr, A Teumer, S Trompet, AG Uitterlinden, C Venturini, AC Vergnaud, N Verweij, V Vitart, D Vuckovic, J Wedenoja, L Yengo, B Yu, W Zhang, JH Zhao, DI Boomsma, J Chambers, DI Chasman, T Daniela, E de Geus, I Deary, JG Eriksson, T Esko, V Eulenburg, OH Franco, P Froguel, C Gieger, HJ Grabe, V Gudnason, U Gyllensten, TB Harris, AL Hartikainen, AC Heath, L Hocking, A Hofman, C Huth, MR Jarvelin, JW Jukema, J Kaprio, JS Kooner, Z Kutalik, J Lahti, C Langenberg, T Lehtimäki, Y Liu, PA Madden, N Martin, A Morrison, B Penninx, N Pirastu, B Psaty, O Raitakari, P Ridker, R Rose, JI Rotter, NJ Samani, H Schmidt, TD Spector, D Stott, D Strachan, I Tzoulaki, P van der Harst, CM van Duijn, P Marques-Vidal, P Vollenweider, NJ Wareham, JB Whitfield, J Wilson, B Wolffenbuttel, G Bakalkin, E Evangelou, Y Liu, KM Rice, S Desrivières, SA Kliewer, DJ Mangelsdorf, CP Müller, D Levy, P Elliott
Publication Date: 2016-12-13

Variant appearance in text: rs780092
PubMed Link: 27911795
Variant Present in the following documents:
  • pnas.1611243113.sd02.xlsx
View BVdb publication page



JAM: A Scalable Bayesian Framework for Joint Analysis of Marginal SNP Effects.

Genetic Epidemiology
PJ Newcombe, DV Conti, S Richardson
Publication Date: 2016-04

Variant appearance in text: rs780092
PubMed Link: 27027514
Variant Present in the following documents:
  • GEPI-40-188-s001.pdf
View BVdb publication page



INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
Publication Date: 2016

Variant appearance in text: rs780092
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
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: rs780092
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases
H Matsuo, K Yamamoto, H Nakaoka, A Nakayama, M Sakiyama, T Chiba, A Takahashi, T Nakamura, H Nakashima, Y Takada, I Danjoh, S Shimizu, J Abe, Y Kawamura, S Terashige, H Ogata, S Tatsukawa, G Yin, R Okada, E Morita, M Naito, A Tokumasu, H Onoue, K Iwaya, T Ito, T Takada, K Inoue, Y Kato, Y Nakamura, Y Sakurai, H Suzuki, Y Kanai, T Hosoya, N Hamajima, I Inoue, M Kubo, K Ichida, H Ooyama, T Shimizu, N Shinomiya
Publication Date: 2016-04

Variant appearance in text: rs780092
PubMed Link: 25646370
Variant Present in the following documents:
  • annrheumdis-2014-206191-s1.pdf
View BVdb publication page



Association between Expression Quantitative Trait Loci and Metabolic Traits in Two Korean Populations.

Plos One
KW Hong, SW Jeong, M Chung, SB Cho
Publication Date: 2014

Variant appearance in text: rs780092
PubMed Link: 25493549
Variant Present in the following documents:
  • Main text
  • pone.0114128.s002.xlsx
View BVdb publication page



MGAS: a powerful tool for multivariate gene-based genome-wide association analysis.

Bioinformatics (Oxford, England)
S Van der Sluis, CV Dolan, J Li, Y Song, P Sham, D Posthuma, MX Li
Publication Date: 2015-04-01

Variant appearance in text: rs780092
PubMed Link: 25431328
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer.

Plos One
D Campa, M Barrdahl, KK Tsilidis, G Severi, WR Diver, A Siddiq, S Chanock, RN Hoover, RG Ziegler, CD Berg, SS Buys, CA Haiman, BE Henderson, FR Schumacher, L Le Marchand, D Flesch-Janys, S Lindström, DJ Hunter, SE Hankinson, WC Willett, P Kraft, DG Cox, KT Khaw, A Tjønneland, L Dossus, D Trichopoulos, S Panico, CH van Gils, E Weiderpass, A Barricarte, M Sund, MM Gaudet, G Giles, M Southey, L Baglietto, J Chang-Claude, R Kaaks, F Canzian
Publication Date: 2014

Variant appearance in text: rs780092
PubMed Link: 24523857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biobanking across the phenome - at the center of chronic disease research.

Bmc Public Health
M Imboden, NM Probst-Hensch
Publication Date: 2013-11-25

Variant appearance in text: rs780092
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
View BVdb publication page



ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.

Bmc Medical Genomics
M Bysani, O Wallerman, S Bornelöv, K Zatloukal, J Komorowski, C Wadelius
Publication Date: 2013-11-08

Variant appearance in text: rs780092
PubMed Link: 24206787
Variant Present in the following documents:
  • 1755-8794-6-50-S2.docx
View BVdb publication page



Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

Journal Of Lipid Research
Y Wu, AF Marvelle, J Li, DC Croteau-Chonka, AB Feranil, CW Kuzawa, Y Li, LS Adair, KL Mohlke
Publication Date: 2013-11

Variant appearance in text: rs780092
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Nature Genetics
A Köttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek, C Hundertmark, G Pistis, D Ruggiero, CM O'Seaghdha, T Haller, Q Yang, T Tanaka, AD Johnson, Z Kutalik, AV Smith, J Shi, M Struchalin, RP Middelberg, MJ Brown, AL Gaffo, N Pirastu, G Li, C Hayward, T Zemunik, J Huffman, L Yengo, JH Zhao, A Demirkan, MF Feitosa, X Liu, G Malerba, LM Lopez, P van der Harst, X Li, ME Kleber, AA Hicks, IM Nolte, A Johansson, F Murgia, SH Wild, SJ Bakker, JF Peden, A Dehghan, M Steri, A Tenesa, V Lagou, P Salo, M Mangino, LM Rose, T Lehtimäki, OM Woodward, Y Okada, A Tin, C Müller, C Oldmeadow, M Putku, D Czamara, P Kraft, L Frogheri, GA Thun, A Grotevendt, GK Gislason, TB Harris, LJ Launer, P McArdle, AR Shuldiner, E Boerwinkle, J Coresh, H Schmidt, M Schallert, NG Martin, GW Montgomery, M Kubo, Y Nakamura, T Tanaka, PB Munroe, NJ Samani, DR Jacobs, K Liu, P D'Adamo, S Ulivi, JI Rotter, BM Psaty, P Vollenweider, G Waeber, S Campbell, O Devuyst, P Navarro, I Kolcic, N Hastie, B Balkau, P Froguel, T Esko, A Salumets, KT Khaw, C Langenberg, NJ Wareham, A Isaacs, A Kraja, Q Zhang, PS Wild, RJ Scott, EG Holliday, E Org, M Viigimaa, S Bandinelli, JE Metter, A Lupo, E Trabetti, R Sorice, A Döring, E Lattka, K Strauch, F Theis, M Waldenberger, HE Wichmann, G Davies, AJ Gow, M Bruinenberg, , RP Stolk, JS Kooner, W Zhang, BR Winkelmann, BO Boehm, S Lucae, BW Penninx, JH Smit, G Curhan, P Mudgal, RM Plenge, L Portas, I Persico, M Kirin, JF Wilson, I Mateo Leach, WH van Gilst, A Goel, H Ongen, A Hofman, F Rivadeneira, AG Uitterlinden, M Imboden, A von Eckardstein, F Cucca, R Nagaraja, MG Piras, M Nauck, C Schurmann, K Budde, F Ernst, SM Farrington, E Theodoratou, I Prokopenko, M Stumvoll, A Jula, M Perola, V Salomaa, SY Shin, TD Spector, C Sala, PM Ridker, M Kähönen, J Viikari, C Hengstenberg, CP Nelson, , , , , JF Meschia, MA Nalls, P Sharma, AB Singleton, N Kamatani, T Zeller, M Burnier, J Attia, M Laan, N Klopp, HL Hillege, S Kloiber, H Choi, M Pirastu, S Tore, NM Probst-Hensch, H Völzke, V Gudnason, A Parsa, R Schmidt, JB Whitfield, M Fornage, P Gasparini, DS Siscovick, O Polašek, H Campbell, I Rudan, N Bouatia-Naji, A Metspalu, RJ Loos, CM van Duijn, IB Borecki, L Ferrucci, G Gambaro, IJ Deary, BH Wolffenbuttel, JC Chambers, W März, PP Pramstaller, H Snieder, U Gyllensten, AF Wright, G Navis, H Watkins, JC Witteman, S Sanna, S Schipf, MG Dunlop, A Tönjes, S Ripatti, N Soranzo, D Toniolo, DI Chasman, O Raitakari, WH Kao, M Ciullo, CS Fox, M Caulfield, M Bochud, C Gieger
Publication Date: 2013-02

Variant appearance in text: rs780092
PubMed Link: 23263486
Variant Present in the following documents:
  • NIHMS458823-supplement-Supplementary_Table_4.xlsx
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: rs780092
PubMed Link: 23105936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.

Plos One
W Osman, Y Okada, Y Kamatani, M Kubo, K Matsuda, Y Nakamura
Publication Date: 2012

Variant appearance in text: rs780092
PubMed Link: 22558069
Variant Present in the following documents:
  • pone.0032683.s005.doc
View BVdb publication page



Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.

Hepatology (Baltimore, Md.)
N Santoro, CK Zhang, H Zhao, AJ Pakstis, G Kim, R Kursawe, DJ Dykas, AE Bale, C Giannini, B Pierpont, MM Shaw, L Groop, S Caprio
Publication Date: 2012-03

Variant appearance in text: rs780092
PubMed Link: 22105854
Variant Present in the following documents:
  • NIHMS339279-supplement-Supplement.xls
View BVdb publication page



Genetics of venous thrombosis: insights from a new genome wide association study.

Plos One
M Germain, N Saut, N Greliche, C Dina, JC Lambert, C Perret, W Cohen, T Oudot-Mellakh, G Antoni, MC Alessi, D Zelenika, F Cambien, L Tiret, M Bertrand, AM Dupuy, L Letenneur, M Lathrop, J Emmerich, P Amouyel, DA Trégouët, PE Morange
Publication Date: 2011

Variant appearance in text: rs780092
PubMed Link: 21980494
Variant Present in the following documents:
  • pone.0025581.s001.doc
View BVdb publication page



Global analysis of the impact of environmental perturbation on cis-regulation of gene expression.

Plos Genetics
E Grundberg, V Adoue, T Kwan, B Ge, QL Duan, KC Lam, V Koka, A Kindmark, ST Weiss, K Tantisira, H Mallmin, BA Raby, O Nilsson, T Pastinen
Publication Date: 2011-01-20

Variant appearance in text: rs780092
PubMed Link: 21283786
Variant Present in the following documents:
  • pgen.1001279.s019.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000264717.2 c.1572+1350A>G - intron_variant - 17/18
ENST00000424318.2 c.1002+1350A>G - intron_variant - 16/17
NM_001486.4 c.1572+1350A>G - intron_variant - 17/18