C5 c.759-82G>A

Variant ID: 9-123789634-C-T

NM_001735.2(C5):c.759-82G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Single Nucleotide Polymorphisms of IL-33 Gene Correlated with Renal Allograft Fibrosis in Kidney Transplant Recipients.

Journal Of Immunology Research
Liu, Xuzhong X; Liu, Kun K; Gui, Zeping Z; Feng, Dengyuan D; Wang, Zijie Z; Zheng, Ming M; Fei, Shuang S; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Ju, Xiaobing X; Zhang, Hengcheng H; Tan, Ruoyun R; Gu, Min M
Publication Date: 2021

Variant appearance in text: rs2416811
PubMed Link: 34950738
Variant Present in the following documents:
  • JIR2021-8029180.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs2416811
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2416811
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2416811
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2416811
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A novel method for testing association of multiple genetic markers with a multinomial trait.

Proceedings. American Statistical Association. Annual Meeting
Kwon, Soonil S; Goodarzi, Mark O MO; Taylor, Kent D KD; Cui, Jinrui J; Chen, Y-D Ida YD; Rotter, Jerome I JI; Hsueh, Willa W; Guo, Xiuqing X
Publication Date: 2010

Variant appearance in text: rs2416811
PubMed Link: 26005397
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.

Plos Genetics
Chang, Monica M; Rowland, Charles M CM; Garcia, Veronica E VE; Schrodi, Steven J SJ; Catanese, Joseph J JJ; van der Helm-van Mil, Annette H M AH; Ardlie, Kristin G KG; Amos, Christopher I CI; Criswell, Lindsey A LA; Kastner, Daniel L DL; Gregersen, Peter K PK; Kurreeman, Fina A S FA; Toes, Rene E M RE; Huizinga, Tom W J TW; Seldin, Michael F MF; Begovich, Ann B AB
Publication Date: 2008-06-27

Variant appearance in text: rs2416811
PubMed Link: 18648537
Variant Present in the following documents:
  • Main text
  • pgen.1000107.pdf
  • pgen.1000107.s002.xls, sheet 1
View BVdb publication page