Variant ID: 19-11224265-A-G

NM_000527.4(LDLR):c.1413A>G;(p.Arg471Arg)

This variant was identified in 43 publications




Publications:


Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length.

Frontiers In Genetics
A van der Spek, SC Warner, L Broer, CP Nelson, D Vojinovic, S Ahmad, PP Arp, RWW Brouwer, M Denniff, MCGN van den Hout, JGJ van Rooij, R Kraaij, WFJ van IJcken, NJ Samani, MA Ikram, AG Uitterlinden, V Codd, N Amin, CM van Duijn
Publication Date: 2020

Variant appearance in text: rs5930
PubMed Link: 32425970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences
R Cacabelos
Publication Date: 2020-04-26

Variant appearance in text: rs5930
PubMed Link: 32357528
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
LG Leal, C Hoggart, MR Jarvelin, KH Herzig, MJE Sternberg, A David
Publication Date: 2020-06

Variant appearance in text: rs5930
PubMed Link: 32307928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws
Publication Date: 2019-11-19

Variant appearance in text: rs5930
PubMed Link: 31745181
Variant Present in the following documents:
  • 41598_2019_53604_MOESM1_ESM.xlsx
  • 41598_2019_53604_MOESM2_ESM.xlsx
View BVdb publication page



Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer's dementia.

The Indian Journal Of Medical Research
FF de Oliveira, JM Berretta, GV de Almeida Junior, SS de Almeida, ES Chen, MC Smith, PHF Bertolucci
Publication Date: 2019-09

Variant appearance in text: rs5930
PubMed Link: 31719297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics
M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung
Publication Date: 2019-02-07

Variant appearance in text: rs5930
PubMed Link: 30661771
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xlsx
  • mmc3.pdf
View BVdb publication page



Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Lipids In Health And Disease
CS Paththinige, JRDK Rajapakse, GR Constantine, KP Sem, RR Singaraja, RW Jayasekara, VHW Dissanayake
Publication Date: 2018-05-02

Variant appearance in text: LDLR: 1413A>G
PubMed Link: 29720182
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits.

Nature Communications
Y Wu, J Zeng, F Zhang, Z Zhu, T Qi, Z Zheng, LR Lloyd-Jones, RE Marioni, NG Martin, GW Montgomery, IJ Deary, NR Wray, PM Visscher, AF McRae, J Yang
Publication Date: 2018-03-02

Variant appearance in text: rs5930
PubMed Link: 29500431
Variant Present in the following documents:
  • 41467_2018_3371_MOESM7_ESM.xlsx
View BVdb publication page



APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology
R Harada, M Kimura, Y Sato, T Taniguchi, T Tomonari, T Tanaka, H Tanaka, N Muguruma, H Shinomiya, H Honda, I Imoto, M Sogabe, T Okahisa, T Takayama
Publication Date: 2018-01-30

Variant appearance in text: rs5930
PubMed Link: 29382324
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: rs5930
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Iranian Biomedical Journal
M Ekrami, M Torabi, S Ghafouri-Fard, J Mowla, B Mohammad Soltani, F Hashemi-Gorji, Z Mohebbi, M Miryounesi
Publication Date: 2018-03

Variant appearance in text: rs5930
PubMed Link: 28734274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology
A Sharma, KL Sharma, A Gupta, A Yadav, A Kumar
Publication Date: 2017-06-14

Variant appearance in text: rs5930
PubMed Link: 28652652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
C Lonjou, F Damiola, M Moissonnier, G Durand, I Malakhova, V Masyakin, F Le Calvez-Kelm, E Cardis, G Byrnes, A Kesminiene, F Lesueur
Publication Date: 2017-05-12

Variant appearance in text: rs5930
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls
View BVdb publication page



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.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: rs5930
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Population genetics of immune-related multilocus copy number variation in Native Americans.

Journal Of The Royal Society, Interface
LW Zuccherato, S Schneider, E Tarazona-Santos, RJ Hardwick, DE Berg, H Bogle, MH Gouveia, LR Machado, M Machado, F Rodrigues-Soares, GB Soares-Souza, DL Togni, R Zamudio, RH Gilman, D Duarte, EJ Hollox, MR Rodrigues
Publication Date: 2017-03

Variant appearance in text: rs5930
PubMed Link: 28356540
Variant Present in the following documents:
  • rsif20170057supp1.doc
View BVdb publication page



Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer's disease dementia.

Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)
FF Oliveira, ES Chen, MC Smith, PH Bertolucci
Publication Date: 2017

Variant appearance in text: rs5930
PubMed Link: 28099631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.

Human Genome Variation
FA Al-Allaf, M Athar, Z Abduljaleel, A Bouazzaoui, MM Taher, R Own, AF Al-Allaf, I AbuMansour, Z Azhar, FA Ba-Hammam, H Abalkhail, A Alashwal
Publication Date: 2014

Variant appearance in text: LDLR: 1413A>G; rs5930
PubMed Link: 27081511
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: rs5930
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Publication Date: 2015-09

Variant appearance in text: LDLR: 1413A>G; rs5930
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
  • pgen.1005379.s016.docx
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
Publication Date: 2015-06-26

Variant appearance in text: rs5930
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls
View BVdb publication page



Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications
B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig
Publication Date: 2015-06-17

Variant appearance in text: LDLR: 1413A>G; Arg471Arg
PubMed Link: 26081744
Variant Present in the following documents:
  • ncomms8339-s1.pdf
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Arg471Arg; rs5930
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linking hypothetical knowledge patterns to disease molecular signatures for biomarker discovery in Alzheimer's disease.

Genome Medicine
A Malhotra, E Younesi, S Bagewadi, M Hofmann-Apitius
Publication Date: 2014

Variant appearance in text: rs5930
PubMed Link: 25484918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: rs5930
PubMed Link: 25414277
Variant Present in the following documents:
  • NIHMS63163-supplement-Supplementary_Data.docx
View BVdb publication page



Integrating functional data to prioritize causal variants in statistical fine-mapping studies.

Plos Genetics
G Kichaev, WY Yang, S Lindstrom, F Hormozdiari, E Eskin, AL Price, P Kraft, B Pasaniuc
Publication Date: 2014-10

Variant appearance in text: rs5930
PubMed Link: 25357204
Variant Present in the following documents:
  • pgen.1004722.s015.pdf
View BVdb publication page



Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure.

Neurobiology Of Aging
NM Warstadt, EL Dennis, N Jahanshad, O Kohannim, TM Nir, KL McMahon, GI de Zubicaray, GW Montgomery, AK Henders, NG Martin, JB Whitfield, CR Jack, MA Bernstein, MW Weiner, AW Toga, MJ Wright, PM Thompson,
Publication Date: 2014-11

Variant appearance in text: rs5930
PubMed Link: 24997672
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

Plos One
Z Yang, Y Xu, H Luo, X Ma, Q Wang, Y Wang, W Deng, T Jiang, G Sun, T He, J Hu, Y Li, J Wang, T Li, X Hu
Publication Date: 2014

Variant appearance in text: rs5930
PubMed Link: 24776925
Variant Present in the following documents:
  • pone.0092298.s005.xlsx
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: LDLR: Arg471=
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs5930
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: rs5930
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
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: rs5930
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc5.xls
  • mmc7.xls
View BVdb publication page



Dyslipidemia and dementia: current epidemiology, genetic evidence, and mechanisms behind the associations.

Journal Of Alzheimer'S Disease : Jad
C Reitz
Publication Date: 2012

Variant appearance in text: rs5930
PubMed Link: 21965313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research
K Srivastava, A Srivastava, KL Sharma, B Mittal
Publication Date: 2011

Variant appearance in text: rs5930
PubMed Link: 21708280
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroimaging measures as endophenotypes in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
MN Braskie, JM Ringman, PM Thompson
Publication Date: 2011-03-31

Variant appearance in text: rs5930
PubMed Link: 21547229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biological, clinical and population relevance of 95 loci for blood lipids.

Nature
TM Teslovich, K Musunuru, AV Smith, AC Edmondson, IM Stylianou, M Koseki, JP Pirruccello, S Ripatti, DI Chasman, CJ Willer, CT Johansen, SW Fouchier, A Isaacs, GM Peloso, M Barbalic, SL Ricketts, JC Bis, YS Aulchenko, G Thorleifsson, MF Feitosa, J Chambers, M Orho-Melander, O Melander, T Johnson, X Li, X Guo, M Li, Y Shin Cho, M Jin Go, Y Jin Kim, JY Lee, T Park, K Kim, X Sim, R Twee-Hee Ong, DC Croteau-Chonka, LA Lange, JD Smith, K Song, J Hua Zhao, X Yuan, J Luan, C Lamina, A Ziegler, W Zhang, RY Zee, AF Wright, JC Witteman, JF Wilson, G Willemsen, HE Wichmann, JB Whitfield, DM Waterworth, NJ Wareham, G Waeber, P Vollenweider, BF Voight, V Vitart, AG Uitterlinden, M Uda, J Tuomilehto, JR Thompson, T Tanaka, I Surakka, HM Stringham, TD Spector, N Soranzo, JH Smit, J Sinisalo, K Silander, EJ Sijbrands, A Scuteri, J Scott, D Schlessinger, S Sanna, V Salomaa, J Saharinen, C Sabatti, A Ruokonen, I Rudan, LM Rose, R Roberts, M Rieder, BM Psaty, PP Pramstaller, I Pichler, M Perola, BW Penninx, NL Pedersen, C Pattaro, AN Parker, G Pare, BA Oostra, CJ O'Donnell, MS Nieminen, DA Nickerson, GW Montgomery, T Meitinger, R McPherson, MI McCarthy, W McArdle, D Masson, NG Martin, F Marroni, M Mangino, PK Magnusson, G Lucas, R Luben, RJ Loos, ML Lokki, G Lettre, C Langenberg, LJ Launer, EG Lakatta, R Laaksonen, KO Kyvik, F Kronenberg, IR König, KT Khaw, J Kaprio, LM Kaplan, A Johansson, MR Jarvelin, AC Janssens, E Ingelsson, W Igl, G Kees Hovingh, JJ Hottenga, A Hofman, AA Hicks, C Hengstenberg, IM Heid, C Hayward, AS Havulinna, ND Hastie, TB Harris, T Haritunians, AS Hall, U Gyllensten, C Guiducci, LC Groop, E Gonzalez, C Gieger, NB Freimer, L Ferrucci, J Erdmann, P Elliott, KG Ejebe, A Döring, AF Dominiczak, S Demissie, P Deloukas, EJ de Geus, U de Faire, G Crawford, FS Collins, YD Chen, MJ Caulfield, H Campbell, NP Burtt, LL Bonnycastle, DI Boomsma, SM Boekholdt, RN Bergman, I Barroso, S Bandinelli, CM Ballantyne, TL Assimes, T Quertermous, D Altshuler, M Seielstad, TY Wong, ES Tai, AB Feranil, CW Kuzawa, LS Adair, HA Taylor, IB Borecki, SB Gabriel, JG Wilson, H Holm, U Thorsteinsdottir, V Gudnason, RM Krauss, KL Mohlke, JM Ordovas, PB Munroe, JS Kooner, AR Tall, RA Hegele, JJ Kastelein, EE Schadt, JI Rotter, E Boerwinkle, DP Strachan, V Mooser, K Stefansson, MP Reilly, NJ Samani, H Schunkert, LA Cupples, MS Sandhu, PM Ridker, DJ Rader, CM van Duijn, L Peltonen, GR Abecasis, M Boehnke, S Kathiresan
Publication Date: 2010-08-05

Variant appearance in text: rs5930
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
View BVdb publication page



Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

Plos Genetics
DI Chasman, G Paré, S Mora, JC Hopewell, G Peloso, R Clarke, LA Cupples, A Hamsten, S Kathiresan, A Mälarstig, JM Ordovas, S Ripatti, AN Parker, JP Miletich, PM Ridker
Publication Date: 2009-11

Variant appearance in text: rs5930
PubMed Link: 19936222
Variant Present in the following documents:
  • pgen.1000730.s004.pdf
View BVdb publication page



Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

European Journal Of Epidemiology
G Andreotti, I Menashe, J Chen, SC Chang, A Rashid, YT Gao, TQ Han, LC Sakoda, S Chanock, PS Rosenberg, AW Hsing
Publication Date: 2009

Variant appearance in text: rs5930
PubMed Link: 19888660
Variant Present in the following documents:
  • NIHMS188716-supplement-supplement_1.pdf
View BVdb publication page



Candidate gene polymorphisms for ischemic stroke.

Stroke
M Matarin, WM Brown, H Dena, A Britton, FW De Vrieze, TG Brott, RD Brown, BB Worrall, LD Case, SJ Chanock, EJ Metter, L Ferruci, D Gamble, JA Hardy, SS Rich, A Singleton, JF Meschia
Publication Date: 2009-11

Variant appearance in text: rs5930
PubMed Link: 19729601
Variant Present in the following documents:
  • NIHMS145584-supplement-1.pdf
View BVdb publication page



Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

Plos One
P Linsel-Nitschke, A Götz, J Erdmann, I Braenne, P Braund, C Hengstenberg, K Stark, M Fischer, S Schreiber, NE El Mokhtari, A Schaefer, J Schrezenmeir, J Schrezenmeier, D Rubin, A Hinney, T Reinehr, C Roth, J Ortlepp, P Hanrath, AS Hall, M Mangino, W Lieb, C Lamina, IM Heid, A Doering, C Gieger, A Peters, T Meitinger, HE Wichmann, IR König, A Ziegler, F Kronenberg, NJ Samani, H Schunkert, ,
Publication Date: 2008-08-20

Variant appearance in text: rs5930
PubMed Link: 18714375
Variant Present in the following documents:
  • pone.0002986.s003.doc
View BVdb publication page



MAST3: a novel IBD risk factor that modulates TLR4 signaling.

Genes And Immunity
C Labbé, P Goyette, C Lefebvre, C Stevens, T Green, MK Tello-Ruiz, Z Cao, AL Landry, J Stempak, V Annese, A Latiano, SR Brant, RH Duerr, KD Taylor, JH Cho, AH Steinhart, MJ Daly, MS Silverberg, RJ Xavier, JD Rioux
Publication Date: 2008-10

Variant appearance in text: rs5930
PubMed Link: 18650832
Variant Present in the following documents:
  • NIHMS55589-supplement-Suppl_Table_3.xls
View BVdb publication page



Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
G Andreotti, J Chen, YT Gao, A Rashid, BE Chen, P Rosenberg, LC Sakoda, J Deng, MC Shen, BS Wang, TQ Han, BH Zhang, M Yeager, R Welch, S Chanock, JF Fraumeni, AW Hsing
Publication Date: 2008-03

Variant appearance in text: rs5930
PubMed Link: 18296645
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

Human Molecular Genetics
H Zhu, HM Tucker, KE Grear, JF Simpson, AK Manning, LA Cupples, S Estus
Publication Date: 2007-07-15

Variant appearance in text: rs5930
PubMed Link: 17517690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

Bmc Biotechnology
U Liljedahl, M Fredriksson, A Dahlgren, AC Syvänen
Publication Date: 2004-10-22

Variant appearance in text: rs5930
PubMed Link: 15500681
Variant Present in the following documents:
  • 1472-6750-4-24-S1.pdf
  • aaaaaMain text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1668A>G p.Arg556= synonymous_variant 10/18 -
ENST00000455727.2 c.909A>G p.Arg303= synonymous_variant 8/16 -
ENST00000535915.1 c.1290A>G p.Arg430= synonymous_variant 9/17 -
ENST00000545707.1 c.1032A>G p.Arg344= synonymous_variant 9/16 -
ENST00000557933.1 c.1413A>G p.Arg471= synonymous_variant 10/18 -
ENST00000558013.1 c.1413A>G p.Arg471= synonymous_variant 10/18 -
ENST00000558518.1 c.1413A>G p.Arg471= synonymous_variant 10/18 -
ENST00000559340.1 c.135A>G p.Arg45= synonymous_variant,NMD_transcript_variant 2/5 -
ENST00000560467.1 c.894A>G p.Arg298= synonymous_variant 6/6 -
NM_000527.5 c.1413A>G p.Arg471= synonymous_variant 10/18 -
NM_001195798.2 c.1413A>G p.Arg471= synonymous_variant 10/18 -
NM_001195799.2 c.1290A>G p.Arg430= synonymous_variant 9/17 -
NM_001195800.2 c.909A>G p.Arg303= synonymous_variant 8/16 -
NM_001195803.2 c.1032A>G p.Arg344= synonymous_variant 9/16 -