GCA c.193-1368T>C

Variant ID: 2-163207480-T-C

NM_012198.3(GCA):c.193-1368T>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genetic predisposition in the 2'-5'A pathway in the development of type 1 diabetes: potential contribution to dysregulation of innate antiviral immunity.

Diabetologia
Pedersen, Kristina K; Haupt-Jorgensen, Martin M; Krogvold, Lars L; Kaur, Simranjeet S; Gerling, Ivan C IC; Pociot, Flemming F; Dahl-Jørgensen, Knut K; Buschard, Karsten K
Publication Date: 2021-08

Variant appearance in text: rs3788964
PubMed Link: 33973017
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs3788964
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One
Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F
Publication Date: 2014

Variant appearance in text: rs3788964
PubMed Link: 25144376
Variant Present in the following documents:
  • pone.0105723.s013.xlsx, sheet 3
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs3788964
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest.

Nucleic Acids Research
Roshan, Usman U; Chikkagoudar, Satish S; Wei, Zhi Z; Wang, Kai K; Hakonarson, Hakon H
Publication Date: 2011-05

Variant appearance in text: rs3788964
PubMed Link: 21317188
Variant Present in the following documents:
  • supp_gkr064_supplementarygkr064.pdf
View BVdb publication page



Genetics of type 1 diabetes.

Clinical Chemistry
Steck, Andrea K AK; Rewers, Marian J MJ
Publication Date: 2011-02

Variant appearance in text: rs3788964
PubMed Link: 21205883
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Genes And Immunity
Julier, C C; Akolkar, B B; Concannon, P P; Morahan, G G; Nierras, C C; Pugliese, A A; ,
Publication Date: 2009-12

Variant appearance in text: rs3788964
PubMed Link: 19956109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs3788964
PubMed Link: 19956106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs3788964
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page



IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.

Human Molecular Genetics
Liu, Siyang S; Wang, Hongjie H; Jin, Yulan Y; Podolsky, Robert R; Reddy, M V Prasad Linga MV; Pedersen, Jennifer J; Bode, Bruce B; Reed, John J; Steed, Dennis D; Anderson, Steve S; Yang, Ping P; Muir, Andy A; Steed, Leigh L; Hopkins, Diane D; Huang, Yihua Y; Purohit, Sharad S; Wang, Cong-Yi CY; Steck, Andrea K AK; Montemari, Annalisa A; Eisenbarth, George G; Rewers, Marian M; She, Jin-Xiong JX
Publication Date: 2009-01-15

Variant appearance in text: rs3788964
PubMed Link: 18927125
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

Diabetologia
Rafiq, S S; Melzer, D D; Weedon, M N MN; Lango, H H; Saxena, R R; Scott, L J LJ; , ; Palmer, C N A CN; Morris, A D AD; McCarthy, M I MI; Ferrucci, L L; Hattersley, A T AT; Zeggini, E E; Frayling, T M TM
Publication Date: 2008-12

Variant appearance in text: rs3788964
PubMed Link: 18853133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

Nature Genetics
, ; Harley, John B JB; Alarcón-Riquelme, Marta E ME; Criswell, Lindsey A LA; Jacob, Chaim O CO; Kimberly, Robert P RP; Moser, Kathy L KL; Tsao, Betty P BP; Vyse, Timothy J TJ; Langefeld, Carl D CD; Nath, Swapan K SK; Guthridge, Joel M JM; Cobb, Beth L BL; Mirel, Daniel B DB; Marion, Miranda C MC; Williams, Adrienne H AH; Divers, Jasmin J; Wang, Wei W; Frank, Summer G SG; Namjou, Bahram B; Gabriel, Stacey B SB; Lee, Annette T AT; Gregersen, Peter K PK; Behrens, Timothy W TW; Taylor, Kimberly E KE; Fernando, Michelle M; Zidovetzki, Raphael R; Gaffney, Patrick M PM; Edberg, Jeffrey C JC; Rioux, John D JD; Ojwang, Joshua O JO; James, Judith A JA; Merrill, Joan T JT; Gilkeson, Gary S GS; Seldin, Michael F MF; Yin, Hong H; Baechler, Emily C EC; Li, Quan-Zhen QZ; Wakeland, Edward K EK; Bruner, Gail R GR; Kaufman, Kenneth M KM; Kelly, Jennifer A JA
Publication Date: 2008-02

Variant appearance in text: rs3788964
PubMed Link: 18204446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Nature
,
Publication Date: 2007-06-07

Variant appearance in text: rs3788964
PubMed Link: 17554300
Variant Present in the following documents:
  • Main text
View BVdb publication page