SGSM2 c.134-2228C>A

Variant ID: 17-2262703-C-A

NM_014853.2(SGSM2):c.134-2228C>A

This variant was identified in 8 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: rs4790333
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: rs4790333
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
  • ddx293.pdf
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Colocalization of GWAS and eQTL Signals Detects Target Genes.

American Journal Of Human Genetics
Hormozdiari, Farhad F; van de Bunt, Martijn M; Segrè, Ayellet V AV; Li, Xiao X; Joo, Jong Wha J JWJ; Bilow, Michael M; Sul, Jae Hoon JH; Sankararaman, Sriram S; Pasaniuc, Bogdan B; Eskin, Eleazar E
Publication Date: 2016-12-01

Variant appearance in text: rs4790333
PubMed Link: 27866706
Variant Present in the following documents:
  • Main text
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Recent advances in understanding the genetic architecture of type 2 diabetes.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M
Publication Date: 2015-10-15

Variant appearance in text: rs4790333
PubMed Link: 26160912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of type 2 diabetes-pitfalls and possibilities.

Genes
Prasad, Rashmi B RB; Groop, Leif L
Publication Date: 2015-03-12

Variant appearance in text: rs4790333
PubMed Link: 25774817
Variant Present in the following documents:
  • Main text
  • genes-06-00087.pdf
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Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

Nature Genetics
Huyghe, Jeroen R JR; Jackson, Anne U AU; Fogarty, Marie P MP; Buchkovich, Martin L ML; Stančáková, Alena A; Stringham, Heather M HM; Sim, Xueling X; Yang, Lingyao L; Fuchsberger, Christian C; Cederberg, Henna H; Chines, Peter S PS; Teslovich, Tanya M TM; Romm, Jane M JM; Ling, Hua H; McMullen, Ivy I; Ingersoll, Roxann R; Pugh, Elizabeth W EW; Doheny, Kimberly F KF; Neale, Benjamin M BM; Daly, Mark J MJ; Kuusisto, Johanna J; Scott, Laura J LJ; Kang, Hyun Min HM; Collins, Francis S FS; Abecasis, Gonçalo R GR; Watanabe, Richard M RM; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL
Publication Date: 2013-02

Variant appearance in text: rs4790333
PubMed Link: 23263489
Variant Present in the following documents:
  • Main text
View BVdb publication page



From genotype to human β cell phenotype and beyond.

Islets
Marchetti, Piero P; Syed, Farooq F; Suleiman, Mara M; Bugliani, Marco M; Marselli, Lorella L
Publication Date: 2012

Variant appearance in text: rs4790333
PubMed Link: 23073174
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.

Diabetes
Strawbridge, Rona J RJ; Dupuis, Josée J; Prokopenko, Inga I; Barker, Adam A; Ahlqvist, Emma E; Rybin, Denis D; Petrie, John R JR; Travers, Mary E ME; Bouatia-Naji, Nabila N; Dimas, Antigone S AS; Nica, Alexandra A; Wheeler, Eleanor E; Chen, Han H; Voight, Benjamin F BF; Taneera, Jalal J; Kanoni, Stavroula S; Peden, John F JF; Turrini, Fabiola F; Gustafsson, Stefan S; Zabena, Carina C; Almgren, Peter P; Barker, David J P DJ; Barnes, Daniel D; Dennison, Elaine M EM; Eriksson, Johan G JG; Eriksson, Per P; Eury, Elodie E; Folkersen, Lasse L; Fox, Caroline S CS; Frayling, Timothy M TM; Goel, Anuj A; Gu, Harvest F HF; Horikoshi, Momoko M; Isomaa, Bo B; Jackson, Anne U AU; Jameson, Karen A KA; Kajantie, Eero E; Kerr-Conte, Julie J; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Loos, Ruth J F RJ; Luan, Jian'an J; Makrilakis, Konstantinos K; Manning, Alisa K AK; Martínez-Larrad, María Teresa MT; Narisu, Narisu N; Nastase Mannila, Maria M; Ohrvik, John J; Osmond, Clive C; Pascoe, Laura L; Payne, Felicity F; Sayer, Avan A AA; Sennblad, Bengt B; Silveira, Angela A; Stancáková, Alena A; Stirrups, Kathy K; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tuomi, Tiinamaija T; van 't Hooft, Ferdinand M FM; Walker, Mark M; Weedon, Michael N MN; Xie, Weijia W; Zethelius, Björn B; , ; , ; , ; , ; , ; Ongen, Halit H; Mälarstig, Anders A; Hopewell, Jemma C JC; Saleheen, Danish D; Chambers, John J; Parish, Sarah S; Danesh, John J; Kooner, Jaspal J; Ostenson, Claes-Göran CG; Lind, Lars L; Cooper, Cyrus C CC; Serrano-Ríos, Manuel M; Ferrannini, Ele E; Forsen, Tom J TJ; Clarke, Robert R; Franzosi, Maria Grazia MG; Seedorf, Udo U; Watkins, Hugh H; Froguel, Philippe P; Johnson, Paul P; Deloukas, Panos P; Collins, Francis S FS; Laakso, Markku M; Dermitzakis, Emmanouil T ET; Boehnke, Michael M; McCarthy, Mark I MI; Wareham, Nicholas J NJ; Groop, Leif L; Pattou, François F; Gloyn, Anna L AL; Dedoussis, George V GV; Lyssenko, Valeriya V; Meigs, James B JB; Barroso, Inês I; Watanabe, Richard M RM; Ingelsson, Erik E; Langenberg, Claudia C; Hamsten, Anders A; Florez, Jose C JC
Publication Date: 2011-10

Variant appearance in text: rs4790333
PubMed Link: 21873549
Variant Present in the following documents:
  • Main text
  • 2624.pdf
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