PGM1 c.1144+4300T>C

Variant ID: 1-64108771-T-C

NM_002633.2(PGM1):c.1144+4300T>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2269241
PubMed Link: 34127860
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2269241
PubMed Link: 34127860
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes
Forgetta, Vincenzo V; Manousaki, Despoina D; Istomine, Roman R; Ross, Stephanie S; Tessier, Marie-Catherine MC; Marchand, Luc L; Li, Min M; Qu, Hui-Qi HQ; Bradfield, Jonathan P JP; Grant, Struan F A SFA; Hakonarson, Hakon H; , ; Paterson, Andrew D AD; Piccirillo, Ciriaco C; Polychronakos, Constantin C; Richards, J Brent JB
Publication Date: 2020-04

Variant appearance in text: rs2269241
PubMed Link: 32005708
Variant Present in the following documents:
  • Main text
  • db190831.pdf
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: rs2269241
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: rs2269241
PubMed Link: 26904692
Variant Present in the following documents:
  • Main text
  • JDR2016-9570424.pdf
View BVdb publication page



Genome-wide analysis correlates Ayurveda Prakriti.

Scientific Reports
Govindaraj, Periyasamy P; Nizamuddin, Sheikh S; Sharath, Anugula A; Jyothi, Vuskamalla V; Rotti, Harish H; Raval, Ritu R; Nayak, Jayakrishna J; Bhat, Balakrishna K BK; Prasanna, B V BV; Shintre, Pooja P; Sule, Mayura M; Joshi, Kalpana S KS; Dedge, Amrish P AP; Bharadwaj, Ramachandra R; Gangadharan, G G GG; Nair, Sreekumaran S; Gopinath, Puthiya M PM; Patwardhan, Bhushan B; Kondaiah, Paturu P; Satyamoorthy, Kapaettu K; Valiathan, Marthanda Varma Sankaran MV; Thangaraj, Kumarasamy K
Publication Date: 2015-10-29

Variant appearance in text: rs2269241
PubMed Link: 26511157
Variant Present in the following documents:
  • Main text
  • srep15786.pdf
  • srep15786-s1.pdf
View BVdb publication page



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: rs2269241
PubMed Link: 25422107
Variant Present in the following documents:
  • Main text
  • db141497.pdf
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: rs2269241
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: rs2269241
PubMed Link: 22344559
Variant Present in the following documents:
  • supp_db11-1263_DB111263SupplementaryData.pdf
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: rs2269241
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: rs2269241
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: rs2269241
PubMed Link: 20587799
Variant Present in the following documents:
  • Main text
  • zdb1561.pdf
View BVdb publication page



Detecting purely epistatic multi-locus interactions by an omnibus permutation test on ensembles of two-locus analyses.

Bmc Bioinformatics
Wongseree, Waranyu W; Assawamakin, Anunchai A; Piroonratana, Theera T; Sinsomros, Saravudh S; Limwongse, Chanin C; Chaiyaratana, Nachol N
Publication Date: 2009-09-17

Variant appearance in text: rs2269241
PubMed Link: 19761607
Variant Present in the following documents:
  • Main text
  • 1471-2105-10-294.pdf
View BVdb publication page



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: rs2269241
PubMed Link: 19430480
Variant Present in the following documents:
  • Main text
View BVdb publication page