Publications:

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Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics

S Moon, Y Lee, S Won, J Lee

Publication Date: 2018-11-01

Variant appearance in text: rs508487

PubMed Link: 30382898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications

L Southam, A Gilly, D Süveges, AE Farmaki, J Schwartzentruber, I Tachmazidou, A Matchan, NW Rayner, E Tsafantakis, M Karaleftheri, Y Xue, G Dedoussis, E Zeggini

Publication Date: 2017-05-26

Variant appearance in text: rs508487

PubMed Link: 28548082

Variant Present in the following documents:

• ncomms15606-s1.pdf

View BVdb publication page

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The impact of rare and low-frequency genetic variants in common disease.

Genome Biology

L Bomba, K Walter, N Soranzo

Publication Date: 2017-04-27

Variant appearance in text: rs508487

PubMed Link: 28449691

Variant Present in the following documents:

• 13059_2017_1212_MOESM1_ESM.xlsx

View BVdb publication page

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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: rs508487

PubMed Link: 28257690

Variant Present in the following documents:

• mmc3.xlsx

View BVdb publication page

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Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

International Journal Of Epidemiology

TV Varga, A Kurbasic, M Aine, P Eriksson, A Ali, G Hindy, S Gustafsson, J Luan, D Shungin, Y Chen, CA Schulz, PM Nilsson, G Hallmans, I Barroso, P Deloukas, C Langenberg, RA Scott, NJ Wareham, L Lind, E Ingelsson, O Melander, M Orho-Melander, F Renström, PW Franks

Publication Date: 2017-08-01

Variant appearance in text: rs508487

PubMed Link: 27864399

Variant Present in the following documents:

• dyw245_supplementary_method_2.docx
• dyw245_supplementary_table_7.xlsx

View BVdb publication page

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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: rs508487

PubMed Link: 26776183

Variant Present in the following documents:

• NIHMS742521-supplement-2.pdf

View BVdb publication page

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Burden of disease variants in participants of the Long Life Family Study.

Aging

M Stevenson, H Bae, N Schupf, S Andersen, Q Zhang, T Perls, P Sebastiani

Publication Date: 2015-02

Variant appearance in text: rs508487

PubMed Link: 25664523

Variant Present in the following documents:

• aging-07-0123-s001.docx

View BVdb publication page

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Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio

J Guillemot, R Essalmani, J Hamelin, NG Seidah

Publication Date: 2014

Variant appearance in text: rs508487

PubMed Link: 25349778

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs508487

PubMed Link: 25170055

Variant Present in the following documents:

• NIHMS664832-supplement-supplement.doc

View BVdb publication page

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Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.

Plos One

JC Almlöf, P Lundmark, A Lundmark, B Ge, T Pastinen, , AH Goodall, F Cambien, P Deloukas, WH Ouwehand, AC Syvänen

Publication Date: 2014

Variant appearance in text: rs508487

PubMed Link: 25025429

Variant Present in the following documents:

• pone.0102612.s006.docx

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Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology

RC Hoogeveen, JW Gaubatz, W Sun, RC Dodge, JR Crosby, J Jiang, D Couper, SS Virani, S Kathiresan, E Boerwinkle, CM Ballantyne

Publication Date: 2014-05

Variant appearance in text: rs508487

PubMed Link: 24558110

Variant Present in the following documents:

• Main text
• NIHMS567604-supplement-Methods_and_Material.pdf
• NIHMS567604-supplement-Supplemental_material.pdf

View BVdb publication page

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Genetics of the first seven proprotein convertase enzymes in health and disease.

Current Genomics

H Turpeinen, Z Ortutay, M Pesu

Publication Date: 2013-11

Variant appearance in text: rs508487

PubMed Link: 24396277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000320934.3	c.*1147G>A	-	3_prime_UTR_variant	17/17	-
NM_001001522.2	c.*491C>T	-	3_prime_UTR_variant	5/5	-
NM_003186.5	c.*491C>T	-	3_prime_UTR_variant	5/5	-
NM_004716.4	c.*1147G>A	-	3_prime_UTR_variant	17/17	-