Variant ID: 1-63049593-C-G

NM_033407.3(DOCK7):c.1801-668G>C

This variant was identified in 63 publications




Publications:


A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
Publication Date: 2019-10-21

Variant appearance in text: rs1748195
PubMed Link: 31636271
Variant Present in the following documents:
  • 41467_2019_12703_MOESM11_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM6_ESM.xlsx
  • 41467_2019_12703_MOESM8_ESM.xlsx
View BVdb publication page



Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause.

Scientific Reports
G Ibáñez-Sanz, A Díez-Villanueva, M Riera-Ponsati, T Fernández-Villa, P Fernández Navarro, M Bustamante, J Llorca, P Amiano, N Ascunce, G Fernández-Tardón, I Salcedo Bellido, D Salas, R Capelo Álvarez, M Crous-Bou, L Ortega-Valín, B Pérez-Gómez, G Castaño-Vinyals, C Palazuelos, JM Altzibar, E Ardanaz, A Tardón, JJ Jiménez Moleón, V Olmos Juste, N Aragonés, M Pollán, M Kogevinas, V Moreno
Publication Date: 2019-09-16

Variant appearance in text: rs1748195
PubMed Link: 31527690
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



The association between genetic variants of angiopoietin-like 3 and risk of diabetes mellitus is modified by dietary factors in Koreans.

Scientific Reports
CY Park, J Moon, G Jo, J Lee, OY Kim, H Oh, H Lim, MJ Shin
Publication Date: 2019-01-25

Variant appearance in text: rs1748195
PubMed Link: 30683883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct and indirect genetic effects on triglycerides through omics and correlated phenotypes.

Bmc Proceedings
AE Justice, AG Howard, L Fernández-Rhodes, M Graff, R Tao, KE North
Publication Date: 2018

Variant appearance in text: rs1748195
PubMed Link: 30275878
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determinants of IBD Heritability: Genes, Bugs, and More.

Inflammatory Bowel Diseases
W Turpin, A Goethel, L Bedrani, K Croitoru Mdcm
Publication Date: 2018-05-18

Variant appearance in text: rs1748195
PubMed Link: 29701818
Variant Present in the following documents:
  • Main text
View BVdb publication page



DOCK7-ANGPTL3 SNPs and their haplotypes with serum lipid levels and the risk of coronary artery disease and ischemic stroke.

Lipids In Health And Disease
WJ Li, RX Yin, XL Cao, WX Chen, F Huang, JZ Wu
Publication Date: 2018-02-17

Variant appearance in text: rs1748195
PubMed Link: 29454388
Variant Present in the following documents:
  • Main text
View BVdb publication page



New insights into ANGPLT3 in controlling lipoprotein metabolism and risk of cardiovascular diseases.

Lipids In Health And Disease
X Su, DQ Peng
Publication Date: 2018-01-15

Variant appearance in text: rs1748195
PubMed Link: 29334984
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: rs1748195
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort.

Clinical And Translational Gastroenterology
OM Damas, L Gomez, MA Quintero, E Rampersaud, S Slifer, GW Beecham, DH Kerman, AR Deshpande, DA Sussman, MT Abreu, JL McCauley
Publication Date: 2017-04-13

Variant appearance in text: rs1748195
PubMed Link: 28406493
Variant Present in the following documents:
  • ctg201713x2.xls
View BVdb publication page



Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.

Cell Stem Cell
EE Pashos, Y Park, X Wang, A Raghavan, W Yang, D Abbey, DT Peters, J Arbelaez, M Hernandez, N Kuperwasser, W Li, Z Lian, Y Liu, W Lv, SL Lytle-Gabbin, DH Marchadier, P Rogov, J Shi, KJ Slovik, IM Stylianou, L Wang, R Yan, X Zhang, S Kathiresan, SA Duncan, TS Mikkelsen, EE Morrisey, DJ Rader, CD Brown, K Musunuru
Publication Date: 2017-04-06

Variant appearance in text: rs1748195
PubMed Link: 28388432
Variant Present in the following documents:
  • NIHMS863825-supplement-10.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: rs1748195
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA).

Human Genetics
Z Wang, A Manichukal, DC Goff, S Mora, JM Ordovas, NM Pajewski, WS Post, JI Rotter, MM Sale, SA Santorico, D Siscovick, MY Tsai, DK Arnett, S Rich, AC Frazier-Wood
Publication Date: 2017-06

Variant appearance in text: rs1748195
PubMed Link: 28352986
Variant Present in the following documents:
  • 439_2017_1782_MOESM1_ESM.docx
View BVdb publication page



LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn's disease patients.

Jci Insight
TC Liu, T Naito, Z Liu, KL VanDussen, T Haritunians, D Li, K Endo, Y Kawai, M Nagasaki, Y Kinouchi, DP McGovern, T Shimosegawa, Y Kakuta, TS Stappenbeck
Publication Date: 2017-03-23

Variant appearance in text: rs1748195
PubMed Link: 28352666
Variant Present in the following documents:
  • jciinsight-2-91917-s001.pdf
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
Publication Date: 2017-03-07

Variant appearance in text: rs1748195
PubMed Link: 28270201
Variant Present in the following documents:
  • 13073_2017_414_MOESM11_ESM.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: rs1748195
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

Nature Genetics
KM de Lange, L Moutsianas, JC Lee, CA Lamb, Y Luo, NA Kennedy, L Jostins, DL Rice, J Gutierrez-Achury, SG Ji, G Heap, ER Nimmo, C Edwards, P Henderson, C Mowat, J Sanderson, J Satsangi, A Simmons, DC Wilson, M Tremelling, A Hart, CG Mathew, WG Newman, M Parkes, CW Lees, H Uhlig, C Hawkey, NJ Prescott, T Ahmad, JC Mansfield, CA Anderson, JC Barrett
Publication Date: 2017-02

Variant appearance in text: rs1748195
PubMed Link: 28067908
Variant Present in the following documents:
  • NIHMS70681-supplement-Supplementary_Table_2.xlsx
View BVdb publication page



Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

Genome Medicine
C Blauwendraat, M Francescatto, JR Gibbs, IE Jansen, J Simón-Sánchez, DG Hernandez, AA Dillman, AB Singleton, MR Cookson, P Rizzu, P Heutink
Publication Date: 2016-06-10

Variant appearance in text: rs1748195
PubMed Link: 27287230
Variant Present in the following documents:
  • 13073_2016_320_MOESM8_ESM.xlsx
View BVdb publication page



Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
BD Ye, DP McGovern
Publication Date: 2016-10

Variant appearance in text: rs1748195
PubMed Link: 27156530
Variant Present in the following documents:
  • Main text
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: rs1748195
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



Privacy-preserving genomic testing in the clinic: a model using HIV treatment.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
PJ McLaren, JL Raisaro, M Aouri, M Rotger, E Ayday, I Bartha, MB Delgado, Y Vallet, HF Günthard, M Cavassini, H Furrer, T Doco-Lecompte, C Marzolini, P Schmid, C Di Benedetto, LA Decosterd, J Fellay, JP Hubaux, A Telenti
Publication Date: 2016-08

Variant appearance in text: rs1748195
PubMed Link: 26765343
Variant Present in the following documents:
  • gim2015167x5.doc
  • gim2015167x8.doc
View BVdb publication page



Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies.

Plos One
AM Kulminski, I Culminskaya, KG Arbeev, L Arbeeva, SV Ukraintseva, E Stallard, D Wu, AI Yashin
Publication Date: 2015

Variant appearance in text: rs1748195
PubMed Link: 26295473
Variant Present in the following documents:
  • pone.0136319.s003.pdf
View BVdb publication page



Genetics of Inflammatory Bowel Diseases.

Gastroenterology
DP McGovern, S Kugathasan, JH Cho
Publication Date: 2015-10

Variant appearance in text: rs1748195
PubMed Link: 26255561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Nature Genetics
JZ Liu, S van Sommeren, H Huang, SC Ng, R Alberts, A Takahashi, S Ripke, JC Lee, L Jostins, T Shah, S Abedian, JH Cheon, J Cho, NE Dayani, L Franke, Y Fuyuno, A Hart, RC Juyal, G Juyal, WH Kim, AP Morris, H Poustchi, WG Newman, V Midha, TR Orchard, H Vahedi, A Sood, JY Sung, R Malekzadeh, HJ Westra, K Yamazaki, SK Yang, , , JC Barrett, BZ Alizadeh, M Parkes, T Bk, MJ Daly, M Kubo, CA Anderson, RK Weersma
Publication Date: 2015-09

Variant appearance in text: rs1748195
PubMed Link: 26192919
Variant Present in the following documents:
  • Main text
  • NIHMS68163-supplement-Supplementary_Figure_7.pdf
  • NIHMS68163-supplement-Supplementary_Table_10.pdf
  • NIHMS68163-supplement-Supplementary_Table_2.pdf
  • NIHMS68163-supplement-Supplementary_Table_4.pdf
  • NIHMS68163-supplement-Supplementary_Table_5.pdf
  • NIHMS68163-supplement-Supplementary_Table_7.pdf
  • NIHMS68163-supplement-Supplementary_Table_8.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: rs1748195
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs1748195
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



A systematic heritability analysis of the human whole blood transcriptome.

Human Genetics
T Huan, C Liu, R Joehanes, X Zhang, BH Chen, AD Johnson, C Yao, P Courchesne, CJ O'Donnell, PJ Munson, D Levy
Publication Date: 2015-03

Variant appearance in text: rs1748195
PubMed Link: 25585846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
MA Hall, A Verma, KD Brown-Gentry, R Goodloe, J Boston, S Wilson, B McClellan, C Sutcliffe, HH Dilks, NB Gillani, H Jin, P Mayo, M Allen, N Schnetz-Boutaud, DC Crawford, MD Ritchie, SA Pendergrass
Publication Date: 2014-12

Variant appearance in text: rs1748195
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
  • pgen.1004678.s008.xlsx
  • pgen.1004678.s010.xlsx
  • pgen.1004678.s011.xlsx
View BVdb publication page



Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan
Publication Date: 2014-10

Variant appearance in text: rs1748195
PubMed Link: 25170055
Variant Present in the following documents:
  • NIHMS664832-supplement-supplement.doc
View BVdb publication page



Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans.

Bmc Complementary And Alternative Medicine
SK Chung, H Yu, AY Park, JY Kim, S Cha
Publication Date: 2014-07-09

Variant appearance in text: rs1748195
PubMed Link: 25005712
Variant Present in the following documents:
  • 1472-6882-14-230-S1.xls
  • aaaaaMain text
View BVdb publication page



Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants.

Plos One
M Narahara, K Higasa, S Nakamura, Y Tabara, T Kawaguchi, M Ishii, K Matsubara, F Matsuda, R Yamada
Publication Date: 2014

Variant appearance in text: rs1748195
PubMed Link: 24956270
Variant Present in the following documents:
  • pone.0100924.s011.xlsx
View BVdb publication page



Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.

Circulation. Cardiovascular Genetics
JM Kocarnik, SA Pendergrass, CL Carty, JS Pankow, FR Schumacher, I Cheng, P Durda, JL Ambite, E Deelman, NR Cook, S Liu, J Wactawski-Wende, C Hutter, K Brown-Gentry, S Wilson, LG Best, N Pankratz, CP Hong, SA Cole, VS Voruganti, P Bůžkova, NW Jorgensen, NS Jenny, LR Wilkens, CA Haiman, LN Kolonel, A Lacroix, K North, R Jackson, L Le Marchand, LA Hindorff, DC Crawford, M Gross, U Peters
Publication Date: 2014-04

Variant appearance in text: rs1748195
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
View BVdb publication page



Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

American Journal Of Human Genetics
EA Rosenthal, J Ranchalis, DR Crosslin, A Burt, JD Brunzell, AG Motulsky, DA Nickerson, , EM Wijsman, GP Jarvik
Publication Date: 2013-12-05

Variant appearance in text: rs1748195
PubMed Link: 24268658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).

Bmc Medical Genetics
R Goodloe, K Brown-Gentry, NB Gillani, H Jin, P Mayo, M Allen, B McClellan, J Boston, C Sutcliffe, N Schnetz-Boutaud, HH Dilks, DC Crawford
Publication Date: 2013-11-21

Variant appearance in text: rs1748195
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
View BVdb publication page



Genetic susceptibility for ischemic infarction and arteriolosclerosis based on neuropathologic evaluations.

Cerebrovascular Diseases (Basel, Switzerland)
SY Chou, JM Shulman, BT Keenan, EA Secor, AS Buchman, J Schneider, DA Bennett, PL De Jager
Publication Date: 2013

Variant appearance in text: rs1748195
PubMed Link: 24135527
Variant Present in the following documents:
  • NIHMS527173-supplement-01.pdf
View BVdb publication page



No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human Genetics
L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford
Publication Date: 2013-12

Variant appearance in text: rs1748195
PubMed Link: 24100633
Variant Present in the following documents:
  • NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx
View BVdb publication page



Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study.

Plos Biology
CS Carlson, TC Matise, KE North, CA Haiman, MD Fesinmeyer, S Buyske, FR Schumacher, U Peters, N Franceschini, MD Ritchie, DJ Duggan, KL Spencer, L Dumitrescu, CB Eaton, F Thomas, A Young, C Carty, G Heiss, L Le Marchand, DC Crawford, LA Hindorff, CL Kooperberg,
Publication Date: 2013-09

Variant appearance in text: rs1748195
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
View BVdb publication page



Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,
Publication Date: 2013-05-01

Variant appearance in text: rs1748195
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
View BVdb publication page



Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics
SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie
Publication Date: 2013

Variant appearance in text: rs1748195
PubMed Link: 23382687
Variant Present in the following documents:
  • Main text
  • pgen.1003087.s001.xlsx
View BVdb publication page



Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal Of Investigative Dermatology
Y Lu, H Chen, P Nikamo, H Qi Low, C Helms, M Seielstad, J Liu, AM Bowcock, M Stahle, W Liao
Publication Date: 2013-03

Variant appearance in text: rs1748195
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
View BVdb publication page



Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
CM Povel, JM Boer, NC Onland-Moret, ME Dollé, EJ Feskens, YT van der Schouw
Publication Date: 2012-10-29

Variant appearance in text: rs1748195
PubMed Link: 23101478
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: rs1748195
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc7.xls
View BVdb publication page



Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One
F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato
Publication Date: 2012

Variant appearance in text: rs1748195
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.xls
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
S Huhn, M Bevier, A Rudolph, B Pardini, A Naccarati, R Hein, M Hoffmeister, L Vodickova, J Novotny, H Brenner, J Chang-Claude, K Hemminki, P Vodicka, A Försti
Publication Date: 2012-10-05

Variant appearance in text: rs1748195
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
Publication Date: 2012-07

Variant appearance in text: rs1748195
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics
CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg
Publication Date: 2012-04-01

Variant appearance in text: rs1748195
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
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Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

Nature Genetics
J Kettunen, T Tukiainen, AP Sarin, A Ortega-Alonso, E Tikkanen, LP Lyytikäinen, AJ Kangas, P Soininen, P Würtz, K Silander, DM Dick, RJ Rose, MJ Savolainen, J Viikari, M Kähönen, T Lehtimäki, KH Pietiläinen, M Inouye, MI McCarthy, A Jula, J Eriksson, OT Raitakari, V Salomaa, J Kaprio, MR Järvelin, L Peltonen, M Perola, NB Freimer, M Ala-Korpela, A Palotie, S Ripatti
Publication Date: 2012-01-29

Variant appearance in text: rs1748195
PubMed Link: 22286219
Variant Present in the following documents:
  • NIHMS444574-supplement-supplementary_table_2.xlsx
View BVdb publication page



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: rs1748195
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
A Windemuth, J de Leon, JW Goethe, HI Schwartz, S Woolley, M Susce, M Kocherla, K Bogaard, TR Holford, RL Seip, G Ruaño
Publication Date: 2012-03-30

Variant appearance in text: rs1748195
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke
Publication Date: 2011-08

Variant appearance in text: rs1748195
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s012.xls
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Evidence for age as a modifier of genetic associations for lipid levels.

Annals Of Human Genetics
L Dumitrescu, K Brown-Gentry, R Goodloe, K Glenn, W Yang, N Kornegay, CH Pui, MV Relling, DC Crawford
Publication Date: 2011-09

Variant appearance in text: rs1748195
PubMed Link: 21777205
Variant Present in the following documents:
  • NIHMS304382-supplement-Supp_Table_S1-S4.doc
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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
Publication Date: 2011-06

Variant appearance in text: rs1748195
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
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Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study.

The Journal Of Infectious Diseases
R Lubomirov, S Colombo, J di Iulio, B Ledergerber, R Martinez, M Cavassini, B Hirschel, E Bernasconi, L Elzi, P Vernazza, H Furrer, HF Günthard, A Telenti,
Publication Date: 2011-01-15

Variant appearance in text: rs1748195
PubMed Link: 21288825
Variant Present in the following documents:
  • Main text
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Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals.

American Journal Of Human Genetics
J Ding, JE Gudjonsson, L Liang, PE Stuart, Y Li, W Chen, M Weichenthal, E Ellinghaus, A Franke, W Cookson, RP Nair, JT Elder, GR Abecasis
Publication Date: 2010-12-10

Variant appearance in text: rs1748195
PubMed Link: 21129726
Variant Present in the following documents:
  • mmc1.pdf
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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: rs1748195
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
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Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Plos Genetics
AC Nica, SB Montgomery, AS Dimas, BE Stranger, C Beazley, I Barroso, ET Dermitzakis
Publication Date: 2010-04-01

Variant appearance in text: rs1748195
PubMed Link: 20369022
Variant Present in the following documents:
  • Main text
  • pgen.1000895.s001.xls
  • pgen.1000895.s002.xls
View BVdb publication page



Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

Circulation. Cardiovascular Genetics
ME Keebler, CL Sanders, A Surti, C Guiducci, NP Burtt, S Kathiresan
Publication Date: 2009-06

Variant appearance in text: rs1748195
PubMed Link: 20031591
Variant Present in the following documents:
  • Main text
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Human Molecular Genetics
RA Hegele, MR Ban, N Hsueh, BA Kennedy, H Cao, GY Zou, S Anand, S Yusuf, MW Huff, J Wang
Publication Date: 2009-11-01

Variant appearance in text: rs1748195
PubMed Link: 19656773
Variant Present in the following documents:
  • Main text
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Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

European Heart Journal
A Murray, C Cluett, S Bandinelli, AM Corsi, L Ferrucci, J Guralnik, A Singleton, T Frayling, D Melzer
Publication Date: 2009-07

Variant appearance in text: rs1748195
PubMed Link: 19435741
Variant Present in the following documents:
  • Main text
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Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

Journal Of Lipid Research
MB Lanktree, SS Anand, S Yusuf, RA Hegele,
Publication Date: 2009-07

Variant appearance in text: rs1748195
PubMed Link: 19299407
Variant Present in the following documents:
  • Main text
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Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

American Journal Of Human Genetics
L Ferrucci, JR Perry, A Matteini, M Perola, T Tanaka, K Silander, N Rice, D Melzer, A Murray, C Cluett, LP Fried, D Albanes, AM Corsi, A Cherubini, J Guralnik, S Bandinelli, A Singleton, J Virtamo, J Walston, RD Semba, TM Frayling
Publication Date: 2009-02

Variant appearance in text: rs1748195
PubMed Link: 19185284
Variant Present in the following documents:
  • Main text
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Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature Genetics
C Sabatti, SK Service, AL Hartikainen, A Pouta, S Ripatti, J Brodsky, CG Jones, NA Zaitlen, T Varilo, M Kaakinen, U Sovio, A Ruokonen, J Laitinen, E Jakkula, L Coin, C Hoggart, A Collins, H Turunen, S Gabriel, P Elliot, MI McCarthy, MJ Daly, MR Järvelin, NB Freimer, L Peltonen
Publication Date: 2009-01

Variant appearance in text: rs1748195
PubMed Link: 19060910
Variant Present in the following documents:
  • Main text
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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human Molecular Genetics
KL Mohlke, M Boehnke, GR Abecasis
Publication Date: 2008-10-15

Variant appearance in text: rs1748195
PubMed Link: 18852197
Variant Present in the following documents:
  • Main text
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Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
CJ Willer, S Sanna, AU Jackson, A Scuteri, LL Bonnycastle, R Clarke, SC Heath, NJ Timpson, SS Najjar, HM Stringham, J Strait, WL Duren, A Maschio, F Busonero, A Mulas, G Albai, AJ Swift, MA Morken, N Narisu, D Bennett, S Parish, H Shen, P Galan, P Meneton, S Hercberg, D Zelenika, WM Chen, Y Li, LJ Scott, PA Scheet, J Sundvall, RM Watanabe, R Nagaraja, S Ebrahim, DA Lawlor, Y Ben-Shlomo, G Davey-Smith, AR Shuldiner, R Collins, RN Bergman, M Uda, J Tuomilehto, A Cao, FS Collins, E Lakatta, GM Lathrop, M Boehnke, D Schlessinger, KL Mohlke, GR Abecasis
Publication Date: 2008-02

Variant appearance in text: rs1748195
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
  • NIHMS836655-supplement-Supplementary_Material.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000251157.5 c.1801-668G>C - intron_variant - 15/48
ENST00000340370.5 c.1801-668G>C - intron_variant - 15/48
NM_001271999.1 c.1801-668G>C - intron_variant - 15/48
NM_001272000.1 c.1801-668G>C - intron_variant - 15/48
NM_001272001.1 c.1801-668G>C - intron_variant - 15/47
NM_001330614.1 c.1801-668G>C - intron_variant - 15/49
NM_001367561.1 c.1801-668G>C - intron_variant - 15/49
NM_033407.3 c.1801-668G>C - intron_variant - 15/48