KCNH7 c.2963-859G>C

Variant ID: 2-163237390-C-G

NM_033272.3(KCNH7):c.2963-859G>C

This variant was identified in 12 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: rs2068330
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
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: rs2068330
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



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: rs2068330
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: rs2068330
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Feature selection based on differentially correlated gene pairs reveals the mechanism of IFN-β therapy for multiple sclerosis.

Peerj
Jin, Tao T; Wang, Chi C; Tian, Suyan S
Publication Date: 2020

Variant appearance in text: rs2068330
PubMed Link: 32211244
Variant Present in the following documents:
  • Main text
  • peerj-08-8812.pdf
View BVdb publication page



Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

Current Genomics
J, De Azevêdo Silva de AS; C, Addobbati A; P, Sandrin-Garcia SG; S, Crovella C
Publication Date: 2014-02

Variant appearance in text: rs2068330
PubMed Link: 24653663
Variant Present in the following documents:
  • Main text
  • CG-15-52.pdf
View BVdb publication page



Study of transcriptional effects in Cis at the IFIH1 locus.

Plos One
Zouk, Hana H; Marchand, Luc L; Polychronakos, Constantin C
Publication Date: 2010-07-13

Variant appearance in text: rs2068330
PubMed Link: 20644636
Variant Present in the following documents:
  • Main text
  • pone.0011564.pdf
View BVdb publication page



The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease.

Bmc Medical Genetics
Penna-Martinez, Marissa M; Ramos-Lopez, Elizabeth E; Robbers, Inka I; Kahles, Heinrich H; Hahner, Stefanie S; Willenberg, Holger H; Reisch, Nicole N; Seidl, Christian C; Segni, Maria M; Badenhoop, Klaus K
Publication Date: 2009-12-04

Variant appearance in text: rs2068330
PubMed Link: 19961590
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-126.pdf
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: rs2068330
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: rs2068330
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: rs2068330
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page



IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients.

European Journal Of Human Genetics : Ejhg
Couturier, Nicolas N; Gourraud, Pierre-Antoine PA; Cournu-Rebeix, Isabelle I; Gout, Claire C; Bucciarelli, Florence F; Edan, Gilles G; Babron, Marie-Claude MC; Clerget-Darpoux, Françoise F; Clanet, Michel M; Fontaine, Bertrand B; Brassat, David D
Publication Date: 2009-06

Variant appearance in text: rs2068330
PubMed Link: 19156166
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: rs2068330
PubMed Link: 18927125
Variant Present in the following documents:
  • Main text
View BVdb publication page