DNAH2 c.400-2713C>T

Variant ID: 17-7633692-C-T

NM_020877.2(DNAH2):c.400-2713C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs16956936
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility.

Journal Of Immunology (Baltimore, Md. : 1950)
Ram, Ramesh R; Mehta, Munish M; Nguyen, Quang T QT; Larma, Irma I; Boehm, Bernhard O BO; Pociot, Flemming F; Concannon, Patrick P; Morahan, Grant G
Publication Date: 2016-04-01

Variant appearance in text: rs16956936
PubMed Link: 26912320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control.

Journal Of Diabetes Research
Brorsson, Caroline A CA; Nielsen, Lotte B LB; Andersen, Marie Louise ML; Kaur, Simranjeet S; Bergholdt, Regine R; Hansen, Lars L; Mortensen, Henrik B HB; Pociot, Flemming F; Størling, Joachim J; ,
Publication Date: 2016

Variant appearance in text: rs16956936
PubMed Link: 26904692
Variant Present in the following documents:
  • Main text
  • JDR2016-9570424.pdf
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Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.

Diabetes
Törn, Carina C; Hadley, David D; Lee, Hye-Seung HS; Hagopian, William W; Lernmark, Åke Å; Simell, Olli O; Rewers, Marian M; Ziegler, Anette A; Schatz, Desmond D; Akolkar, Beena B; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Toppari, Jorma J; Mykkänen, Juha J; Ilonen, Jorma J; Rich, Stephen S SS; She, Jin-Xiong JX; Steck, Andrea K AK; Krischer, Jeffrey J; ,
Publication Date: 2015-05

Variant appearance in text: rs16956936
PubMed Link: 25422107
Variant Present in the following documents:
  • Main text
  • db141497.pdf
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A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.

Genetic Epidemiology
Evangelou, Marina M; Smyth, Deborah J DJ; Fortune, Mary D MD; Burren, Oliver S OS; Walker, Neil M NM; Guo, Hui H; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Concannon, Patrick P; Rich, Stephen S SS; Todd, John A JA; Wallace, Chris C
Publication Date: 2014-12

Variant appearance in text: rs16956936
PubMed Link: 25371288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs16956936
PubMed Link: 22825589
Variant Present in the following documents:
View BVdb publication page



Identification of novel type 1 diabetes candidate genes by integrating genome-wide association data, protein-protein interactions, and human pancreatic islet gene expression.

Diabetes
Bergholdt, Regine R; Brorsson, Caroline C; Palleja, Albert A; Berchtold, Lukas A LA; Fløyel, Tina T; Bang-Berthelsen, Claus Heiner CH; Frederiksen, Klaus Stensgaard KS; Jensen, Lars Juhl LJ; Størling, Joachim J; Pociot, Flemming F
Publication Date: 2012-04

Variant appearance in text: rs16956936
PubMed Link: 22344559
Variant Present in the following documents:
  • supp_db11-1263_DB111263SupplementaryData.pdf
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Synthetic associations in the context of genome-wide association scan signals.

Human Molecular Genetics
Orozco, Gisela G; Barrett, Jeffrey C JC; Zeggini, Eleftheria E
Publication Date: 2010-10-15

Variant appearance in text: rs16956936
PubMed Link: 20805105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of type 1 diabetes: what's next?

Diabetes
Pociot, Flemming F; Akolkar, Beena B; Concannon, Patrick P; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nierras, Concepcion R CR; Todd, John A JA; Rich, Stephen S SS; Nerup, Jørn J
Publication Date: 2010-07

Variant appearance in text: rs16956936
PubMed Link: 20587799
Variant Present in the following documents:
  • Main text
  • zdb1561.pdf
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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Nature Genetics
Barrett, Jeffrey C JC; Clayton, David G DG; Concannon, Patrick P; Akolkar, Beena B; Cooper, Jason D JD; Erlich, Henry A HA; Julier, Cécile C; Morahan, Grant G; Nerup, Jørn J; Nierras, Concepcion C; Plagnol, Vincent V; Pociot, Flemming F; Schuilenburg, Helen H; Smyth, Deborah J DJ; Stevens, Helen H; Todd, John A JA; Walker, Neil M NM; Rich, Stephen S SS; ,
Publication Date: 2009-06

Variant appearance in text: rs16956936
PubMed Link: 19430480
Variant Present in the following documents:
  • Main text
View BVdb publication page