C5 c.66-1229G>A

Variant ID: 9-123809890-C-T

NM_001735.2(C5):c.66-1229G>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Disease-specific regulation of gene expression in a comparative analysis of juvenile idiopathic arthritis and inflammatory bowel disease.

Genome Medicine
Mo, Angela A; Marigorta, Urko M UM; Arafat, Dalia D; Chan, Lai Hin Kimi LHK; Ponder, Lori L; Jang, Se Ryeong SR; Prince, Jarod J; Kugathasan, Subra S; Prahalad, Sampath S; Gibson, Greg G
Publication Date: 2018-06-27

Variant appearance in text: rs1468673
PubMed Link: 29950172
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_558.pdf
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Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population.

Plos One
Xu, Dengfeng D; Yi, Hong H; Yu, Shizhi S; Li, Xiaosong X; Qiao, Yanbin Y; Deng, Weiwei W
Publication Date: 2016

Variant appearance in text: rs1468673
PubMed Link: 26934706
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fitting Proportional Odds Model to Case-Control data with Incorporating Hardy-Weinberg Equilibrium.

Scientific Reports
Zhang, Wei W; Zhang, Zehui Z; Li, Xinmin X; Li, Qizhai Q
Publication Date: 2015-11-26

Variant appearance in text: rs1468673
PubMed Link: 26607176
Variant Present in the following documents:
  • Main text
  • srep17286.pdf
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Copy number variations and gene polymorphisms of complement components in ocular Behcet's disease and Vogt-Koyanagi-Harada syndrome.

Scientific Reports
Xu, Dengfeng D; Hou, Shengping S; Zhang, Jun J; Jiang, Yanni Y; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2015-08-13

Variant appearance in text: rs1468673
PubMed Link: 26269006
Variant Present in the following documents:
  • Main text
  • srep12989.pdf
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Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus.

Arthritis And Rheumatism
Zhou, Xu-jie XJ; Lu, Xiao-lan XL; Nath, Swapan K SK; Lv, Ji-cheng JC; Zhu, Sai-nan SN; Yang, Hai-zhen HZ; Qin, Lian-xiang LX; Zhao, Ming-hui MH; Su, Yin Y; Shen, Nan N; Li, Zhan-guo ZG; Zhang, Hong H; ,
Publication Date: 2012-01

Variant appearance in text: rs1468673
PubMed Link: 21905002
Variant Present in the following documents:
  • Main text
View BVdb publication page



The complement component 5 gene and age-related macular degeneration.

Ophthalmology
Baas, Dominique C DC; Ho, Lintje L; Ennis, Sarah S; Merriam, Joanna E JE; Tanck, Michael W T MW; Uitterlinden, André G AG; de Jong, Paulus T V M PT; Cree, Angela J AJ; Griffiths, Helen L HL; Rivadeneira, Fernando F; Hofman, Albert A; van Duijn, Cornelia C; Smith, R Theodore RT; Barile, Gaetano R GR; Gorgels, Theo G M F TG; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Lotery, Andrew J AJ; Allikmets, Rando R; Bergen, Arthur A B AA
Publication Date: 2010-03

Variant appearance in text: rs1468673
PubMed Link: 20022638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic based gene-gene interactions in rheumatoid arthritis.

Bmc Proceedings
Jung, Jeesun J; Song, Joon Jin JJ; Kwon, Deukwoo D
Publication Date: 2009-12-15

Variant appearance in text: rs1468673
PubMed Link: 20018071
Variant Present in the following documents:
  • Main text
  • 1753-6561-3-S7-S76.pdf
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Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.

British Journal Of Haematology
Cerhan, James R JR; Novak, Anne J AJ; Fredericksen, Zachary S ZS; Wang, Alice H AH; Liebow, Mark M; Call, Timothy G TG; Dogan, Ahmet A; Witzig, Thomas E TE; Ansell, Stephen M SM; Habermann, Thomas M TM; Kay, Neil E NE; Slager, Susan L SL
Publication Date: 2009-06

Variant appearance in text: rs1468673
PubMed Link: 19344414
Variant Present in the following documents:
  • Main text
View BVdb publication page