Variant ID: 12-109895168-C-G

NM_031954.3(KCTD10):c.527+267G>C

This variant was identified in 75 publications




Publications:


Haplotypes of HTRA1 rs1120638, TIMP3 rs9621532, VEGFA rs833068, CFI rs10033900, ERCC6 rs3793784, and KCTD10 rs56209061 Gene Polymorphisms in Age-Related Macular Degeneration.

Disease Markers
R Liutkeviciene, A Vilkeviciute, G Gedvilaite, K Kaikaryte, L Kriauciuniene
Publication Date: 2019

Variant appearance in text: rs2338104
PubMed Link: 31583032
Variant Present in the following documents:
  • Main text
  • DM2019-9602949.pdf
View BVdb publication page



Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs2338104
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc6.xlsx
View BVdb publication page



Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group.

Bmc Medical Genetics
S Liu, M Wu, B Zhang, X Xiong, H Wang, X Zhou
Publication Date: 2019-01-29

Variant appearance in text: rs2338104
PubMed Link: 30696427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying genetic markers associated with susceptibility to cardiovascular diseases.

Future Science Oa
H Shukla, JL Mason, A Sabyah
Publication Date: 2019-01

Variant appearance in text: rs2338104
PubMed Link: 30652019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Item-level analyses reveal genetic heterogeneity in neuroticism.

Nature Communications
M Nagel, K Watanabe, S Stringer, D Posthuma, S van der Sluis
Publication Date: 2018-03-02

Variant appearance in text: rs2338104
PubMed Link: 29500382
Variant Present in the following documents:
  • 41467_2018_3242_MOESM18_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: rs2338104
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Data to genetic risk assessment on high-density cholesterol level associated polymorphisms in Hungarian general and Roma populations.

Data In Brief
P Pikó, S Fiatal, Z Kósa, J Sándor, R Ádány
Publication Date: 2017-10

Variant appearance in text: rs2338104
PubMed Link: 28795114
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: rs2338104
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion.

American Journal Of Orthodontics And Dentofacial Orthopedics : Official Publication Of The American Association Of Orthodontists, Its Constituent Societies, And The American Board Of Orthodontics
CA Weaver, SF Miller, CS da Fontoura, GL Wehby, BA Amendt, NE Holton, V Allareddy, TE Southard, LM Moreno Uribe
Publication Date: 2017-03

Variant appearance in text: rs2338104
PubMed Link: 28257739
Variant Present in the following documents:
  • NIHMS850258-supplement-Addiitonal_Supplemental_Table_IV.xlsx
  • NIHMS850258-supplement-Supplemental_Table_V.xlsx
  • NIHMS850258-supplement-Supplemental_Tables_I__II__III.docx
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: rs2338104
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
S Christie, S Robiou-du-Pont, SS Anand, KM Morrison, SD McDonald, G Paré, SA Atkinson, KK Teo, D Meyre
Publication Date: 2017-03-06

Variant appearance in text: rs2338104
PubMed Link: 28250428
Variant Present in the following documents:
  • 41598_2017_102_MOESM1_ESM.pdf
View BVdb publication page



Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.

Lipids In Health And Disease
J Sun, Y Qian, Y Jiang, J Chen, J Dai, G Jin, J Wang, Z Hu, S Liu, C Shen, H Shen
Publication Date: 2016-10-04

Variant appearance in text: rs2338104
PubMed Link: 27716295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
AK Andiappan, R Melchiotti, TY Poh, M Nah, KJ Puan, E Vigano, D Haase, N Yusof, B San Luis, J Lum, D Kumar, S Foo, L Zhuang, A Vasudev, A Irwanto, B Lee, A Nardin, H Liu, F Zhang, J Connolly, J Liu, A Mortellaro, Y Wang, M Poidinger, A Larbi, F Zolezzi, O Rotzschke
Publication Date: 2015-08-10

Variant appearance in text: rs2338104
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
  • ncomms8971-s3.xlsx
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: rs2338104
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: rs2338104
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Candidate Gene Analyses of Skeletal Variation in Malocclusion.

Journal Of Dental Research
CS da Fontoura, SF Miller, GL Wehby, BA Amendt, NE Holton, TE Southard, V Allareddy, LM Moreno Uribe
Publication Date: 2015-07

Variant appearance in text: rs2338104
PubMed Link: 25910506
Variant Present in the following documents:
  • DS_10.1177_0022034515581643.pdf
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: rs2338104
PubMed Link: 25474351
Variant Present in the following documents:
  • Main text
  • pgen.1004678.s007.xlsx
  • pgen.1004678.s011.xlsx
View BVdb publication page



Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Investigative Ophthalmology & Visual Science
NA Restrepo, KL Spencer, R Goodloe, TA Garrett, G Heiss, P Bůžková, N Jorgensen, RA Jensen, TC Matise, LA Hindorff, BE Klein, R Klein, TY Wong, CY Cheng, BK Cornes, ES Tai, MD Ritchie, JL Haines, DC Crawford
Publication Date: 2014-09-09

Variant appearance in text: rs2338104
PubMed Link: 25205864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cis and trans effects of human genomic variants on gene expression.

Plos Genetics
J Bryois, A Buil, DM Evans, JP Kemp, SB Montgomery, DF Conrad, KM Ho, S Ring, M Hurles, P Deloukas, G Davey Smith, ET Dermitzakis
Publication Date: 2014-07

Variant appearance in text: rs2338104
PubMed Link: 25010687
Variant Present in the following documents:
  • pgen.1004461.s012.xlsx
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: rs2338104
PubMed Link: 24956270
Variant Present in the following documents:
  • pone.0100924.s011.xlsx
View BVdb publication page



Mapping the genetic architecture of gene regulation in whole blood.

Plos One
K Schramm, C Marzi, C Schurmann, M Carstensen, E Reinmaa, R Biffar, G Eckstein, C Gieger, HJ Grabe, G Homuth, G Kastenmüller, R Mägi, A Metspalu, E Mihailov, A Peters, A Petersmann, M Roden, K Strauch, K Suhre, A Teumer, U Völker, H Völzke, R Wang-Sattler, M Waldenberger, T Meitinger, T Illig, C Herder, H Grallert, H Prokisch
Publication Date: 2014

Variant appearance in text: rs2338104
PubMed Link: 24740359
Variant Present in the following documents:
  • pone.0093844.s005.xls
View BVdb publication page



A Simple Scalable Association Hypothesis Test Combining Gene-wide Evidence From Multiple Polymorphisms.

British Journal Of Medicine And Medical Research
D Vaidya, LR Yanek, RA Mathias, TF Moy, DM Becker, LC Becker
Publication Date: 2014-03

Variant appearance in text: rs2338104
PubMed Link: 24688980
Variant Present in the following documents:
  • Main text
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: rs2338104
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
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: rs2338104
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
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: rs2338104
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
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: rs2338104
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: rs2338104
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
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: rs2338104
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of HDL genetic risk scores on coronary artery calcified plaque and mortality in individuals with type 2 diabetes from the Diabetes Heart Study.

Cardiovascular Diabetology
LM Raffield, AJ Cox, FC Hsu, MC Ng, CD Langefeld, JJ Carr, BI Freedman, DW Bowden
Publication Date: 2013-06-25

Variant appearance in text: rs2338104
PubMed Link: 23799899
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multiethnic replication study of plasma lipoprotein levels-associated SNPs identified in recent GWAS.

Plos One
EK Bryant, AS Dressen, CH Bunker, JE Hokanson, RF Hamman, MI Kamboh, FY Demirci
Publication Date: 2013

Variant appearance in text: rs2338104
PubMed Link: 23717430
Variant Present in the following documents:
  • Main text
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: rs2338104
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
View BVdb publication page



Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
GJ McKay, DA Savage, CC Patterson, G Lewis, AJ McKnight, AP Maxwell,
Publication Date: 2013

Variant appearance in text: rs2338104
PubMed Link: 23555584
Variant Present in the following documents:
  • Main text
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: rs2338104
PubMed Link: 23382687
Variant Present in the following documents:
  • 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: rs2338104
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: rs2338104
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: rs2338104
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc7.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: rs2338104
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
  • aaaaaMain text
View BVdb publication page



Genetic modulation of lipid profiles following lifestyle modification or metformin treatment: the Diabetes Prevention Program.

Plos Genetics
TI Pollin, T Isakova, KA Jablonski, PI de Bakker, A Taylor, J McAteer, Q Pan, ES Horton, LM Delahanty, D Altshuler, AR Shuldiner, RB Goldberg, JC Florez, PW Franks,
Publication Date: 2012

Variant appearance in text: rs2338104
PubMed Link: 22951888
Variant Present in the following documents:
  • pgen.1002895.s002.docx
View BVdb publication page



Mapping cis- and trans-regulatory effects across multiple tissues in twins.

Nature Genetics
E Grundberg, KS Small, ÅK Hedman, AC Nica, A Buil, S Keildson, JT Bell, TP Yang, E Meduri, A Barrett, J Nisbett, M Sekowska, A Wilk, SY Shin, D Glass, M Travers, JL Min, S Ring, K Ho, G Thorleifsson, A Kong, U Thorsteindottir, C Ainali, AS Dimas, N Hassanali, C Ingle, D Knowles, M Krestyaninova, CE Lowe, P Di Meglio, SB Montgomery, L Parts, S Potter, G Surdulescu, L Tsaprouni, S Tsoka, V Bataille, R Durbin, FO Nestle, S O'Rahilly, N Soranzo, CM Lindgren, KT Zondervan, KR Ahmadi, EE Schadt, K Stefansson, GD Smith, MI McCarthy, P Deloukas, ET Dermitzakis, TD Spector,
Publication Date: 2012-10

Variant appearance in text: rs2338104
PubMed Link: 22941192
Variant Present in the following documents:
  • NIHMS50099-supplement-1.pdf
View BVdb publication page



TRIB1 constitutes a molecular link between regulation of sleep and lipid metabolism in humans.

Translational Psychiatry
HM Ollila, S Utge, E Kronholm, V Aho, W Van Leeuwen, K Silander, T Partonen, M Perola, J Kaprio, V Salomaa, M Sallinen, M Härmä, T Porkka-Heiskanen, T Paunio
Publication Date: 2012-03-20

Variant appearance in text: rs2338104
PubMed Link: 22832862
Variant Present in the following documents:
  • tp201220x1.pdf
View BVdb publication page



Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.

Lancet (London, England)
BF Voight, GM Peloso, M Orho-Melander, R Frikke-Schmidt, M Barbalic, MK Jensen, G Hindy, H Hólm, EL Ding, T Johnson, H Schunkert, NJ Samani, R Clarke, JC Hopewell, JF Thompson, M Li, G Thorleifsson, C Newton-Cheh, K Musunuru, JP Pirruccello, D Saleheen, L Chen, A Stewart, A Schillert, U Thorsteinsdottir, G Thorgeirsson, S Anand, JC Engert, T Morgan, J Spertus, M Stoll, K Berger, N Martinelli, D Girelli, PP McKeown, CC Patterson, SE Epstein, J Devaney, MS Burnett, V Mooser, S Ripatti, I Surakka, MS Nieminen, J Sinisalo, ML Lokki, M Perola, A Havulinna, U de Faire, B Gigante, E Ingelsson, T Zeller, P Wild, PI de Bakker, OH Klungel, AH Maitland-van der Zee, BJ Peters, A de Boer, DE Grobbee, PW Kamphuisen, VH Deneer, CC Elbers, NC Onland-Moret, MH Hofker, C Wijmenga, WM Verschuren, JM Boer, YT van der Schouw, A Rasheed, P Frossard, S Demissie, C Willer, R Do, JM Ordovas, GR Abecasis, M Boehnke, KL Mohlke, MJ Daly, C Guiducci, NP Burtt, A Surti, E Gonzalez, S Purcell, S Gabriel, J Marrugat, J Peden, J Erdmann, P Diemert, C Willenborg, IR König, M Fischer, C Hengstenberg, A Ziegler, I Buysschaert, D Lambrechts, F Van de Werf, KA Fox, NE El Mokhtari, D Rubin, J Schrezenmeir, S Schreiber, A Schäfer, J Danesh, S Blankenberg, R Roberts, R McPherson, H Watkins, AS Hall, K Overvad, E Rimm, E Boerwinkle, A Tybjaerg-Hansen, LA Cupples, MP Reilly, O Melander, PM Mannucci, D Ardissino, D Siscovick, R Elosua, K Stefansson, CJ O'Donnell, V Salomaa, DJ Rader, L Peltonen, SM Schwartz, D Altshuler, S Kathiresan
Publication Date: 2012-08-11

Variant appearance in text: rs2338104
PubMed Link: 22607825
Variant Present in the following documents:
  • Main text
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: rs2338104
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: rs2338104
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
View BVdb publication page



Association of genetic loci with blood lipids in the Chinese population.

Plos One
Z Zhang, L Tao, Z Chen, D Zhou, M Kan, D Zhang, C Li, L He, Y Liu
Publication Date: 2011

Variant appearance in text: rs2338104
PubMed Link: 22073310
Variant Present in the following documents:
  • Main text
  • pone.0027305.s001.docx
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Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk.

Molecular Neurodegeneration
CR Simmons, F Zou, SG Younkin, S Estus
Publication Date: 2011-08-25

Variant appearance in text: rs2338104
PubMed Link: 21867541
Variant Present in the following documents:
  • Main text
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: rs2338104
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
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: rs2338104
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2338104
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s012.xls
  • pgen.1002197.s016.xls
View BVdb publication page



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: rs2338104
PubMed Link: 21777205
Variant Present in the following documents:
  • NIHMS304382-supplement-Supp_Table_S1-S4.doc
View BVdb publication page



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: rs2338104
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
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
G Lettre, CD Palmer, T Young, KG Ejebe, H Allayee, EJ Benjamin, F Bennett, DW Bowden, A Chakravarti, A Dreisbach, DN Farlow, AR Folsom, M Fornage, T Forrester, E Fox, CA Haiman, J Hartiala, TB Harris, SL Hazen, SR Heckbert, BE Henderson, JN Hirschhorn, BJ Keating, SB Kritchevsky, E Larkin, M Li, ME Rudock, CA McKenzie, JB Meigs, YA Meng, TH Mosley, AB Newman, CH Newton-Cheh, DN Paltoo, GJ Papanicolaou, N Patterson, WS Post, BM Psaty, AN Qasim, L Qu, DJ Rader, S Redline, MP Reilly, AP Reiner, SS Rich, JI Rotter, Y Liu, P Shrader, DS Siscovick, WH Tang, HA Taylor, RP Tracy, RS Vasan, KM Waters, R Wilks, JG Wilson, RR Fabsitz, SB Gabriel, S Kathiresan, E Boerwinkle
Publication Date: 2011-02-10

Variant appearance in text: rs2338104
PubMed Link: 21347282
Variant Present in the following documents:
  • pgen.1001300.s016.doc
  • pgen.1001300.s017.doc
View BVdb publication page



Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics
AC Edmondson, PS Braund, IM Stylianou, AV Khera, CP Nelson, ML Wolfe, SL Derohannessian, BJ Keating, L Qu, J He, MD Tobin, M Tomaszewski, J Baumert, N Klopp, A Döring, B Thorand, M Li, MP Reilly, W Koenig, NJ Samani, DJ Rader
Publication Date: 2011-04

Variant appearance in text: rs2338104
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
View BVdb publication page



The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.

Pediatric Research
JM Devaney, PD Thompson, PS Visich, WA Saltarelli, PM Gordon, EF Orkunoglu-Suer, H Gordish-Dressman, BT Harmon, MK Bradbury, K Panchapakesan, R Khianey, MJ Hubal, PM Clarkson, LS Pescatello, RF Zoeller, NM Moyna, TJ Angelopoulos, WE Kraus, EP Hoffman
Publication Date: 2011-06

Variant appearance in text: rs2338104
PubMed Link: 21297524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition influences plasma lipids of participants on habitual diet, but not the response to reductions in dietary intake of saturated fatty acids.

Atherosclerosis
CG Walker, RJ Loos, AD Olson, GS Frost, BA Griffin, JA Lovegrove, TA Sanders, SA Jebb
Publication Date: 2011-04

Variant appearance in text: rs2338104
PubMed Link: 21292264
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • mmc3.doc
  • mmc4.pdf
  • mmc5.pdf
View BVdb publication page



Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.

Plos Genetics
EJ Rossin, K Lage, S Raychaudhuri, RJ Xavier, D Tatar, Y Benita, , C Cotsapas, MJ Daly
Publication Date: 2011-01-13

Variant appearance in text: rs2338104
PubMed Link: 21249183
Variant Present in the following documents:
  • pgen.1001273.s011.xls
  • pgen.1001273.s012.xls
View BVdb publication page



Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica.

Human Genetics
R Gupta, K Ejebe, J Butler, G Lettre, H Lyon, C Guiducci, R Wilks, F Bennett, T Forrester, B Tayo, K Musunuru, J Hirschhorn, S Kathiresan, RS Cooper, CA McKenzie
Publication Date: 2010-11

Variant appearance in text: rs2338104
PubMed Link: 20839009
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
D Weissglas-Volkov, P Pajukanta
Publication Date: 2010-08

Variant appearance in text: rs2338104
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2338104
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

Proceedings Of The National Academy Of Sciences Of The United States Of America
BM Neale, J Fagerness, R Reynolds, L Sobrin, M Parker, S Raychaudhuri, PL Tan, EC Oh, JE Merriam, E Souied, PS Bernstein, B Li, JM Frederick, K Zhang, MA Brantley, AY Lee, DJ Zack, B Campochiaro, P Campochiaro, S Ripke, RT Smith, GR Barile, N Katsanis, R Allikmets, MJ Daly, JM Seddon
Publication Date: 2010-04-20

Variant appearance in text: rs2338104
PubMed Link: 20385826
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2338104
PubMed Link: 20369022
Variant Present in the following documents:
  • pgen.1000895.s001.xls
View BVdb publication page



Genetics of lipid disorders.

Current Opinion In Cardiology
J Pirruccello, S Kathiresan
Publication Date: 2010-05

Variant appearance in text: rs2338104
PubMed Link: 20224388
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.

Circulation. Cardiovascular Genetics
D Weissglas-Volkov, CA Aguilar-Salinas, JS Sinsheimer, L Riba, A Huertas-Vazquez, ML Ordoñez-Sánchez, R Rodriguez-Guillen, RM Cantor, T Tusie-Luna, P Pajukanta
Publication Date: 2010-02

Variant appearance in text: rs2338104
PubMed Link: 20160193
Variant Present in the following documents:
  • Main text
  • NIHMS170221-supplement-Supplement_Material.pdf
View BVdb publication page



Association between a literature-based genetic risk score and cardiovascular events in women.

Jama
NP Paynter, DI Chasman, G Paré, JE Buring, NR Cook, JP Miletich, PM Ridker
Publication Date: 2010-02-17

Variant appearance in text: rs2338104
PubMed Link: 20159871
Variant Present in the following documents:
  • NIHMS173546-supplement-supplement_1.pdf
View BVdb publication page



Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.

Human Molecular Genetics
MP Fogarty, R Xiao, L Prokunina-Olsson, LJ Scott, KL Mohlke
Publication Date: 2010-05-15

Variant appearance in text: rs2338104
PubMed Link: 20159775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Nature Genetics
M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, S Uhrig, C Fischer, E Fröhlich, Z Bálint, B Tang, H Strohmaier, H Lochmüller, B Schlotter-Weigel, J Senderek, A Krebs, KJ Dick, R Petty, C Longman, NE Anderson, GW Padberg, HJ Schelhaas, CM van Ravenswaaij-Arts, TR Pieber, AH Crosby, C Guelly
Publication Date: 2010-02

Variant appearance in text: rs2338104
PubMed Link: 20037588
Variant Present in the following documents:
  • NIHMS32465-supplement-1.pdf
View BVdb publication page



Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

Atherosclerosis
IM Heid, P Henneman, A Hicks, S Coassin, T Winkler, YS Aulchenko, C Fuchsberger, K Song, MF Hivert, DM Waterworth, NJ Timpson, JB Richards, JR Perry, T Tanaka, N Amin, B Kollerits, I Pichler, BA Oostra, B Thorand, RR Frants, T Illig, J Dupuis, B Glaser, T Spector, J Guralnik, JM Egan, JC Florez, DM Evans, N Soranzo, S Bandinelli, OD Carlson, TM Frayling, K Burling, GD Smith, V Mooser, L Ferrucci, JB Meigs, P Vollenweider, KW Dijk, P Pramstaller, F Kronenberg, CM van Duijn
Publication Date: 2010-02

Variant appearance in text: rs2338104
PubMed Link: 20018283
Variant Present in the following documents:
  • NIHMS162670-supplement-01.doc
View BVdb publication page



Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
J Ronald, R Rajagopalan, JE Ranchalis, JK Marshall, TS Hatsukami, PJ Heagerty, GP Jarvik
Publication Date: 2009-12-01

Variant appearance in text: rs2338104
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk.

Arteriosclerosis, Thrombosis, And Vascular Biology
K Musunuru, M Orho-Melander, MP Caulfield, S Li, WA Salameh, RE Reitz, G Berglund, B Hedblad, G Engström, PT Williams, S Kathiresan, O Melander, RM Krauss
Publication Date: 2009-11

Variant appearance in text: rs2338104
PubMed Link: 19729614
Variant Present in the following documents:
  • NIHMS149318-supplement-Supp1.pdf
View BVdb publication page



Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
S Raychaudhuri, RM Plenge, EJ Rossin, AC Ng, , SM Purcell, P Sklar, EM Scolnick, RJ Xavier, D Altshuler, MJ Daly
Publication Date: 2009-06

Variant appearance in text: rs2338104
PubMed Link: 19557189
Variant Present in the following documents:
  • pgen.1000534.s003.doc
View BVdb publication page



Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
YS Aulchenko, S Ripatti, I Lindqvist, D Boomsma, IM Heid, PP Pramstaller, BW Penninx, AC Janssens, JF Wilson, T Spector, NG Martin, NL Pedersen, KO Kyvik, J Kaprio, A Hofman, NB Freimer, MR Jarvelin, U Gyllensten, H Campbell, I Rudan, A Johansson, F Marroni, C Hayward, V Vitart, I Jonasson, C Pattaro, A Wright, N Hastie, I Pichler, AA Hicks, M Falchi, G Willemsen, JJ Hottenga, EJ de Geus, GW Montgomery, J Whitfield, P Magnusson, J Saharinen, M Perola, K Silander, A Isaacs, EJ Sijbrands, AG Uitterlinden, JC Witteman, BA Oostra, P Elliott, A Ruokonen, C Sabatti, C Gieger, T Meitinger, F Kronenberg, A Döring, HE Wichmann, JH Smit, MI McCarthy, CM van Duijn, L Peltonen,
Publication Date: 2009-01

Variant appearance in text: rs2338104
PubMed Link: 19060911
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
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: rs2338104
PubMed Link: 19060910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants at 30 loci contribute to polygenic dyslipidemia.

Nature Genetics
S Kathiresan, CJ Willer, GM Peloso, S Demissie, K Musunuru, EE Schadt, L Kaplan, D Bennett, Y Li, T Tanaka, BF Voight, LL Bonnycastle, AU Jackson, G Crawford, A Surti, C Guiducci, NP Burtt, S Parish, R Clarke, D Zelenika, KA Kubalanza, MA Morken, LJ Scott, HM Stringham, P Galan, AJ Swift, J Kuusisto, RN Bergman, J Sundvall, M Laakso, L Ferrucci, P Scheet, S Sanna, M Uda, Q Yang, KL Lunetta, J Dupuis, PI de Bakker, CJ O'Donnell, JC Chambers, JS Kooner, S Hercberg, P Meneton, EG Lakatta, A Scuteri, D Schlessinger, J Tuomilehto, FS Collins, L Groop, D Altshuler, R Collins, GM Lathrop, O Melander, V Salomaa, L Peltonen, M Orho-Melander, JM Ordovas, M Boehnke, GR Abecasis, KL Mohlke, LA Cupples
Publication Date: 2009-01

Variant appearance in text: rs2338104
PubMed Link: 19060906
Variant Present in the following documents:
  • Main text
  • NIHMS4357-supplement-s1.pdf
View BVdb publication page



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

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: rs2338104
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2338104
PubMed Link: 18852197
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
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: rs2338104
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
ENST00000228495.6 c.527+267G>C - intron_variant - 5/6
ENST00000424763.2 c.-17+267G>C - intron_variant - 4/5
ENST00000440541.2 c.*123+267G>C - intron_variant,NMD_transcript_variant - 4/5
ENST00000535546.1 c.-17+267G>C - intron_variant - 3/4
ENST00000537165.1 c.*1984+267G>C - intron_variant,NMD_transcript_variant - 5/6
ENST00000538161.1 n.424+267G>C - intron_variant,non_coding_transcript_variant - 4/5
ENST00000540089.1 c.-17+267G>C - intron_variant - 2/3
ENST00000540355.1 c.-17+267G>C - intron_variant - 3/4
ENST00000540402.1 n.346+267G>C - intron_variant,non_coding_transcript_variant - 1/2
ENST00000540411.1 c.518+267G>C - intron_variant - 4/5
ENST00000541077.1 c.*305+267G>C - intron_variant,NMD_transcript_variant - 4/4
ENST00000542262.1 c.440+267G>C - intron_variant - 4/4
ENST00000542858.1 c.497+267G>C - intron_variant - 5/5
ENST00000542954.1 c.-17+267G>C - intron_variant - 3/4
ENST00000545759.1 n.2267G>C - non_coding_transcript_exon_variant 1/2 -
NM_001317395.2 c.530+267G>C - intron_variant - 5/6
NM_001317399.2 c.527+267G>C - intron_variant - 5/6
NM_031954.5 c.527+267G>C - intron_variant - 5/6
NR_133897.2 n.395+267G>C - intron_variant,non_coding_transcript_variant - 4/5
NR_133898.2 n.351+267G>C - intron_variant,non_coding_transcript_variant - 4/5