C2 c.1219+1127C>T

Variant ID: 6-31908224-C-T

NM_000063.4(C2):c.1219+1127C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,
Publication Date: 2017-05

Variant appearance in text: rs638383
PubMed Link: 28029757
Variant Present in the following documents:
  • ART-69-1054-s002.pdf
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs638383
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 2
  • NIHMS580846-supplement-1.xlsx, sheet 3
View BVdb publication page



DNA sequence variants in PPARGC1A, a gene encoding a coactivator of the ω-3 LCPUFA sensing PPAR-RXR transcription complex, are associated with NV AMD and AMD-associated loci in genes of complement and VEGF signaling pathways.

Plos One
SanGiovanni, John Paul JP; Chen, Jing J; Sapieha, Przemyslaw P; Aderman, Christopher M CM; Stahl, Andreas A; Clemons, Traci E TE; Chew, Emily Y EY; Smith, Lois E H LE
Publication Date: 2013

Variant appearance in text: rs638383
PubMed Link: 23335958
Variant Present in the following documents:
  • Main text
  • pone.0053155.pdf
View BVdb publication page



The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)
Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA
Publication Date: 2009-10-01

Variant appearance in text: rs638383
PubMed Link: 19654554
Variant Present in the following documents:
  • Main text
View BVdb publication page



C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One
Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB
Publication Date: 2008-05-21

Variant appearance in text: rs638383
PubMed Link: 18493315
Variant Present in the following documents:
  • pone.0002199.s005.pdf
View BVdb publication page