GAB3 c.73-998C>T

Variant ID: X-153945602-G-A

NM_001081573.1(GAB3):c.73-998C>T

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.

Human Genomics
Wu, Wenman W; Zhou, Xuanyou X; Jiang, Zhengwen Z; Zhang, Dazhi D; Yu, Feng F; Zhang, Lanlan L; Wang, Xuefeng X; Chen, Songchang S; Xu, Chenming C
Publication Date: 2022-07-27

Variant appearance in text: rs2664170
PubMed Link: 35897115
Variant Present in the following documents:
  • 40246_2022_Article_400.pdf
  • 40246_2022_400_MOESM4_ESM.xlsx, sheet 1
  • 40246_2022_400_MOESM1_ESM.xlsx, sheet 1
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Type 1 diabetes: genes associated with disease development.

Central-European Journal Of Immunology
Klak, Marta M; Gomółka, Magdalena M; Kowalska, Patrycja P; Cichoń, Justyna J; Ambrożkiewicz, Filip F; Serwańska-Świętek, Marta M; Berman, Andrzej A; Wszoła, Michał M
Publication Date: 2020

Variant appearance in text: rs2664170
PubMed Link: 33658892
Variant Present in the following documents:
  • Main text
  • CEJI-45-43203.pdf
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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia
Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO
Publication Date: 2020-02

Variant appearance in text: rs2664170
PubMed Link: 31754749
Variant Present in the following documents:
  • 125_2019_Article_5032.pdf
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Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.

Pediatric Diabetes
Winkler, Christiane C; Haupt, Florian F; Heigermoser, Martin M; Zapardiel-Gonzalo, Jose J; Ohli, Jasmin J; Faure, Theresa T; Kalideri, Evdokia E; Hommel, Angela A; Delivani, Petrina P; Berner, Reinhard R; Kordonouri, Olga O; Roloff, Frank F; von dem Berge, Thekla T; Lange, Karin K; Oltarzewski, Mariusz M; Glab, Ryszard R; Szypowska, Agnieszka A; Snape, Matthew D MD; Vatish, Manu M; Todd, John A JA; Larsson, Helena E HE; Ramelius, Anita A; Kördel, Jeanette Å JÅ; Casteels, Kristina K; Paulus, Jasmin J; Ziegler, Anette G AG; Bonifacio, Ezio E; ,
Publication Date: 2019-09

Variant appearance in text: rs2664170
PubMed Link: 31192505
Variant Present in the following documents:
  • Main text
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Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families.

Diabetes
Hippich, Markus M; Beyerlein, Andreas A; Hagopian, William A WA; Krischer, Jeffrey P JP; Vehik, Kendra K; Knoop, Jan J; Winker, Christiane C; Toppari, Jorma J; Lernmark, Åke Å; Rewers, Marian J MJ; Steck, Andrea K AK; She, Jin-Xiong JX; Akolkar, Beena B; Robertson, Catherine C CC; Onengut-Gumuscu, Suna S; Rich, Stephen S SS; Bonifacio, Ezio E; Ziegler, Anette-G AG; , ; ,
Publication Date: 2019-04

Variant appearance in text: rs2664170
PubMed Link: 30655385
Variant Present in the following documents:
  • DB180882SupplementaryData.pdf
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Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling.

Scientific Reports
Perry, Daniel J DJ; Wasserfall, Clive H CH; Oram, Richard A RA; Williams, MacKenzie D MD; Posgai, Amanda A; Muir, Andrew B AB; Haller, Michael J MJ; Schatz, Desmond A DA; Wallet, Mark A MA; Mathews, Clayton E CE; Atkinson, Mark A MA; Brusko, Todd M TM
Publication Date: 2018-03-14

Variant appearance in text: rs2664170
PubMed Link: 29540798
Variant Present in the following documents:
  • Main text
  • 41598_2018_22574_MOESM1_ESM.pdf
  • 41598_2018_Article_22574.pdf
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Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.

Frontiers In Endocrinology
Wallet, Mark A MA; Santostefano, Katherine E KE; Terada, Naohiro N; Brusko, Todd M TM
Publication Date: 2017

Variant appearance in text: rs2664170
PubMed Link: 29093700
Variant Present in the following documents:
  • Main text
  • fendo-08-00276.pdf
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Transancestral mapping and genetic load in systemic lupus erythematosus.

Nature Communications
Langefeld, Carl D CD; Ainsworth, Hannah C HC; Cunninghame Graham, Deborah S DS; Kelly, Jennifer A JA; Comeau, Mary E ME; Marion, Miranda C MC; Howard, Timothy D TD; Ramos, Paula S PS; Croker, Jennifer A JA; Morris, David L DL; Sandling, Johanna K JK; Almlöf, Jonas Carlsson JC; Acevedo-Vásquez, Eduardo M EM; Alarcón, Graciela S GS; Babini, Alejandra M AM; Baca, Vicente V; Bengtsson, Anders A AA; Berbotto, Guillermo A GA; Bijl, Marc M; Brown, Elizabeth E EE; Brunner, Hermine I HI; Cardiel, Mario H MH; Catoggio, Luis L; Cervera, Ricard R; Cucho-Venegas, Jorge M JM; Dahlqvist, Solbritt Rantapää SR; D'Alfonso, Sandra S; Da Silva, Berta Martins BM; de la Rúa Figueroa, Iñigo I; Doria, Andrea A; Edberg, Jeffrey C JC; Endreffy, Emőke E; Esquivel-Valerio, Jorge A JA; Fortin, Paul R PR; Freedman, Barry I BI; Frostegård, Johan J; García, Mercedes A MA; de la Torre, Ignacio García IG; Gilkeson, Gary S GS; Gladman, Dafna D DD; Gunnarsson, Iva I; Guthridge, Joel M JM; Huggins, Jennifer L JL; James, Judith A JA; Kallenberg, Cees G M CGM; Kamen, Diane L DL; Karp, David R DR; Kaufman, Kenneth M KM; Kottyan, Leah C LC; Kovács, László L; Laustrup, Helle H; Lauwerys, Bernard R BR; Li, Quan-Zhen QZ; Maradiaga-Ceceña, Marco A MA; Martín, Javier J; McCune, Joseph M JM; McWilliams, David R DR; Merrill, Joan T JT; Miranda, Pedro P; Moctezuma, José F JF; Nath, Swapan K SK; Niewold, Timothy B TB; Orozco, Lorena L; Ortego-Centeno, Norberto N; Petri, Michelle M; Pineau, Christian A CA; Pons-Estel, Bernardo A BA; Pope, Janet J; Raj, Prithvi P; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Russell, Laurie P LP; Sabio, José M JM; Aguilar-Salinas, Carlos A CA; Scherbarth, Hugo R HR; Scorza, Raffaella R; Seldin, Michael F MF; Sjöwall, Christopher C; Svenungsson, Elisabet E; Thompson, Susan D SD; Toloza, Sergio M A SMA; Truedsson, Lennart L; Tusié-Luna, Teresa T; Vasconcelos, Carlos C; Vilá, Luis M LM; Wallace, Daniel J DJ; Weisman, Michael H MH; Wither, Joan E JE; Bhangale, Tushar T; Oksenberg, Jorge R JR; Rioux, John D JD; Gregersen, Peter K PK; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Criswell, Lindsey A LA; Jacob, Chaim O CO; Sivils, Kathy L KL; Tsao, Betty P BP; Schanberg, Laura E LE; Behrens, Timothy W TW; Silverman, Earl D ED; Alarcón-Riquelme, Marta E ME; Kimberly, Robert P RP; Harley, John B JB; Wakeland, Edward K EK; Graham, Robert R RR; Gaffney, Patrick M PM; Vyse, Timothy J TJ
Publication Date: 2017-07-17

Variant appearance in text: rs2664170
PubMed Link: 28714469
Variant Present in the following documents:
  • Main text
  • ncomms16021.pdf
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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: rs2664170
PubMed Link: 26904692
Variant Present in the following documents:
  • Main text
  • JDR2016-9570424.pdf
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Non-HLA type 1 diabetes genes modulate disease risk together with HLA-DQ and islet autoantibodies.

Genes And Immunity
Maziarz, M M; Hagopian, W W; Palmer, J P JP; Sanjeevi, C B CB; Kockum, I I; Breslow, N N; Lernmark, Å Å; , ; , ; ,
Publication Date: 2015-12

Variant appearance in text: rs2664170
PubMed Link: 26513234
Variant Present in the following documents:
  • Main text
  • NIHMS719384-supplement-1.pdf
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Meta-eQTL: a tool set for flexible eQTL meta-analysis.

Bmc Bioinformatics
Di Narzo, Antonio Fabio AF; Cheng, Haoxiang H; Lu, Jianwei J; Hao, Ke K
Publication Date: 2014-11-28

Variant appearance in text: rs2664170
PubMed Link: 25431350
Variant Present in the following documents:
  • Main text
  • 12859_2014_Article_392.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: rs2664170
PubMed Link: 25422107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers.

Pediatric Diabetes
Steck, Andrea K AK; Dong, Fran F; Wong, Randall R; Fouts, Alexandra A; Liu, Edwin E; Romanos, Jihane J; Wijmenga, Cisca C; Norris, Jill M JM; Rewers, Marian J MJ
Publication Date: 2014-08

Variant appearance in text: rs2664170
PubMed Link: 25075402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes.

Diabetes
Steck, Andrea K AK; Wong, Randall R; Wagner, Brandie B; Johnson, Kelly K; Liu, Edwin E; Romanos, Jihane J; Wijmenga, Cisca C; Norris, Jill M JM; Eisenbarth, George S GS; Rewers, Marian J MJ
Publication Date: 2012-03

Variant appearance in text: rs2664170
PubMed Link: 22315323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Confirmation of novel type 1 diabetes risk loci in families.

Diabetologia
Cooper, J D JD; Howson, J M M JM; Smyth, D D; Walker, N M NM; Stevens, H H; Yang, J H M JH; She, J-X JX; Eisenbarth, G S GS; Rewers, M M; Todd, J A JA; Akolkar, B B; Concannon, P P; Erlich, H A HA; Julier, C C; Morahan, G G; Nerup, J J; Nierras, C C; Pociot, F F; Rich, S S SS; ,
Publication Date: 2012-04

Variant appearance in text: rs2664170
PubMed Link: 22278338
Variant Present in the following documents:
  • Main text
  • 125_2012_2450_MOESM6_ESM.pdf
  • 125_2012_Article_2450.pdf
  • 125_2012_2450_MOESM3_ESM.pdf
View BVdb publication page



The genomics of autoimmune disease in the era of genome-wide association studies and beyond.

Autoimmunity Reviews
Lessard, Christopher J CJ; Ice, John A JA; Adrianto, Indra I; Wiley, Graham B GB; Kelly, Jennifer A JA; Gaffney, Patrick M PM; Montgomery, Courtney G CG; Moser, Kathy L KL
Publication Date: 2012-02

Variant appearance in text: rs2664170
PubMed Link: 22001415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.

Expert Opinion On Medical Diagnostics
Carey, Colleen C; Purohit, Sharad S; She, Jin-Xiong JX
Publication Date: 2010-09-01

Variant appearance in text: rs2664170
PubMed Link: 20885991
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2664170
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: rs2664170
PubMed Link: 20587799
Variant Present in the following documents:
  • Main text
  • zdb1561.pdf
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Prediction and interaction in complex disease genetics: experience in type 1 diabetes.

Plos Genetics
Clayton, David G DG
Publication Date: 2009-07

Variant appearance in text: rs2664170
PubMed Link: 19584936
Variant Present in the following documents:
  • pgen.1000540.s001.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: rs2664170
PubMed Link: 19430480
Variant Present in the following documents:
  • Main text
View BVdb publication page