DPEP2 c.732+23C>T

Variant ID: 16-68024995-G-A

NM_022355.3(DPEP2):c.732+23C>T

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs255052
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: DPEP2: 732+23C>T; rs255052
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs255052
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: DPEP2: 732+23C>T; rs255052
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: rs255052
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
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Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.

Journal Of Lipid Research
Lanktree, Matthew B MB; Elbers, Clara C CC; Li, Yun Y; Zhang, Guosheng G; Duan, Qing Q; Karczewski, Konrad J KJ; Guo, Yiran Y; Tragante, Vinicius V; North, Kari E KE; Cushman, Mary M; Asselbergs, Folkert W FW; Wilson, James G JG; Lange, Leslie A LA; Drenos, Fotios F; Reiner, Alex P AP; Barnes, Michael R MR; Keating, Brendan J BJ
Publication Date: 2015-09

Variant appearance in text: rs255052
PubMed Link: 26199122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Plos Genetics
Demirkan, Ayşe A; Henneman, Peter P; Verhoeven, Aswin A; Dharuri, Harish H; Amin, Najaf N; van Klinken, Jan Bert JB; Karssen, Lennart C LC; de Vries, Boukje B; Meissner, Axel A; Göraler, Sibel S; van den Maagdenberg, Arn M J M AM; Deelder, André M AM; C 't Hoen, Peter A PA; van Duijn, Cornelia M CM; van Dijk, Ko Willems KW
Publication Date: 2015-01

Variant appearance in text: rs255052
PubMed Link: 25569235
Variant Present in the following documents:
  • pgen.1004835.s003.pdf
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Efficient multivariate linear mixed model algorithms for genome-wide association studies.

Nature Methods
Zhou, Xiang X; Stephens, Matthew M
Publication Date: 2014-04

Variant appearance in text: rs255052
PubMed Link: 24531419
Variant Present in the following documents:
  • NIHMS560150-supplement-1.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
Povel, Cécile M CM; Boer, Jolanda M A JM; Onland-Moret, N Charlotte NC; Dollé, Martijn E T ME; Feskens, Edith J M EJ; van der Schouw, Yvonne T YT
Publication Date: 2012-10-29

Variant appearance in text: rs255052
PubMed Link: 23101478
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs255052
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

Variant appearance in text: rs255052
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.pdf
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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: rs255052
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
Windemuth, Andreas A; de Leon, Jose J; Goethe, John W JW; Schwartz, Harold I HI; Woolley, Stephen S; Susce, Margaret M; Kocherla, Mohan M; Bogaard, Kali K; Holford, Theodore R TR; Seip, Richard L RL; Ruaño, Gualberto G
Publication Date: 2012-03-30

Variant appearance in text: rs255052
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
Lettre, Guillaume G; Palmer, Cameron D CD; Young, Taylor T; Ejebe, Kenechi G KG; Allayee, Hooman H; Benjamin, Emelia J EJ; Bennett, Franklyn F; Bowden, Donald W DW; Chakravarti, Aravinda A; Dreisbach, Al A; Farlow, Deborah N DN; Folsom, Aaron R AR; Fornage, Myriam M; Forrester, Terrence T; Fox, Ervin E; Haiman, Christopher A CA; Hartiala, Jaana J; Harris, Tamara B TB; Hazen, Stanley L SL; Heckbert, Susan R SR; Henderson, Brian E BE; Hirschhorn, Joel N JN; Keating, Brendan J BJ; Kritchevsky, Stephen B SB; Larkin, Emma E; Li, Mingyao M; Rudock, Megan E ME; McKenzie, Colin A CA; Meigs, James B JB; Meng, Yang A YA; Mosley, Tom H TH; Newman, Anne B AB; Newton-Cheh, Christopher H CH; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patterson, Nick N; Post, Wendy S WS; Psaty, Bruce M BM; Qasim, Atif N AN; Qu, Liming L; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Liu, Yongmei Y; Shrader, Peter P; Siscovick, David S DS; Tang, W H Wilson WH; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Waters, Kevin M KM; Wilks, Rainford R; Wilson, James G JG; Fabsitz, Richard R RR; Gabriel, Stacey B SB; Kathiresan, Sekar S; Boerwinkle, Eric E
Publication Date: 2011-02-10

Variant appearance in text: rs255052
PubMed Link: 21347282
Variant Present in the following documents:
  • Main text
  • pgen.1001300.pdf
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Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Plos Genetics
Nica, Alexandra C AC; Montgomery, Stephen B SB; Dimas, Antigone S AS; Stranger, Barbara E BE; Beazley, Claude C; Barroso, Inês I; Dermitzakis, Emmanouil T ET
Publication Date: 2010-04-01

Variant appearance in text: rs255052
PubMed Link: 20369022
Variant Present in the following documents:
  • Main text
  • pgen.1000895.pdf
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics
Chasman, Daniel I DI; Paré, Guillaume G; Zee, Robert Y L RY; Parker, Alex N AN; Cook, Nancy R NR; Buring, Julie E JE; Kwiatkowski, David J DJ; Rose, Lynda M LM; Smith, Joshua D JD; Williams, Paul T PT; Rieder, Mark J MJ; Rotter, Jerome I JI; Nickerson, Deborah A DA; Krauss, Ronald M RM; Miletich, Joseph P JP; Ridker, Paul M PM
Publication Date: 2008-10

Variant appearance in text: rs255052
PubMed Link: 19802338
Variant Present in the following documents:
  • Main text
View BVdb publication page



European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

Molecular Medicine (Cambridge, Mass.)
Tian, Chao C; Kosoy, Roman R; Nassir, Rami R; Lee, Annette A; Villoslada, Pablo P; Klareskog, Lars L; Hammarström, Lennart L; Garchon, Henri-Jean HJ; Pulver, Ann E AE; Ransom, Michael M; Gregersen, Peter K PK; Seldin, Michael F MF
Publication Date: 2009

Variant appearance in text: rs255052
PubMed Link: 19707526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma levels of lecithin:cholesterol acyltransferase and risk of future coronary artery disease in apparently healthy men and women: a prospective case-control analysis nested in the EPIC-Norfolk population study.

Journal Of Lipid Research
Holleboom, A G AG; Kuivenhoven, J A JA; Vergeer, M M; Hovingh, G K GK; van Miert, J N JN; Wareham, N J NJ; Kastelein, J J P JJ; Khaw, K-T KT; Boekholdt, S M SM
Publication Date: 2010-02

Variant appearance in text: rs255052
PubMed Link: 19671930
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature Genetics
Sabatti, Chiara C; Service, Susan K SK; Hartikainen, Anna-Liisa AL; Pouta, Anneli A; Ripatti, Samuli S; Brodsky, Jae J; Jones, Chris G CG; Zaitlen, Noah A NA; Varilo, Teppo T; Kaakinen, Marika M; Sovio, Ulla U; Ruokonen, Aimo A; Laitinen, Jaana J; Jakkula, Eveliina E; Coin, Lachlan L; Hoggart, Clive C; Collins, Andrew A; Turunen, Hannu H; Gabriel, Stacey S; Elliot, Paul P; McCarthy, Mark I MI; Daly, Mark J MJ; Järvelin, Marjo-Riitta MR; Freimer, Nelson B NB; Peltonen, Leena L
Publication Date: 2009-01

Variant appearance in text: rs255052
PubMed Link: 19060910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: rs255052
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
Willer, Cristen J CJ; Sanna, Serena S; Jackson, Anne U AU; Scuteri, Angelo A; Bonnycastle, Lori L LL; Clarke, Robert R; Heath, Simon C SC; Timpson, Nicholas J NJ; Najjar, Samer S SS; Stringham, Heather M HM; Strait, James J; Duren, William L WL; Maschio, Andrea A; Busonero, Fabio F; Mulas, Antonella A; Albai, Giuseppe G; Swift, Amy J AJ; Morken, Mario A MA; Narisu, Narisu N; Bennett, Derrick D; Parish, Sarah S; Shen, Haiqing H; Galan, Pilar P; Meneton, Pierre P; Hercberg, Serge S; Zelenika, Diana D; Chen, Wei-Min WM; Li, Yun Y; Scott, Laura J LJ; Scheet, Paul A PA; Sundvall, Jouko J; Watanabe, Richard M RM; Nagaraja, Ramaiah R; Ebrahim, Shah S; Lawlor, Debbie A DA; Ben-Shlomo, Yoav Y; Davey-Smith, George G; Shuldiner, Alan R AR; Collins, Rory R; Bergman, Richard N RN; Uda, Manuela M; Tuomilehto, Jaakko J; Cao, Antonio A; Collins, Francis S FS; Lakatta, Edward E; Lathrop, G Mark GM; Boehnke, Michael M; Schlessinger, David D; Mohlke, Karen L KL; Abecasis, Gonçalo R GR
Publication Date: 2008-02

Variant appearance in text: rs255052
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
View BVdb publication page