ADA c.34-6463G>C

Variant ID: 20-43271392-C-G

NM_000022.2(ADA):c.34-6463G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genetic regulation of protein expression in cerebrospinal fluid.

Embo Molecular Medicine
Hansson, Oskar O; Kumar, Atul A; Janelidze, Shorena S; Stomrud, Erik E; Insel, Philip S PS; Blennow, Kaj K; Zetterberg, Henrik H; Fauman, Eric E; Hedman, Åsa K ÅK; Nagle, Michael W MW; Whelan, Christopher D CD; Baird, Denis D; Mälarstig, Anders A; Mattsson-Carlgren, Niklas N
Publication Date: 2022-12-12

Variant appearance in text: rs406383
PubMed Link: 36504281
Variant Present in the following documents:
  • EMMM-15-e16359-s007.pdf
  • EMMM-15-e16359.pdf
View BVdb publication page



A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.

American Journal Of Human Genetics
Feofanova, Elena V EV; Chen, Han H; Dai, Yulin Y; Jia, Peilin P; Grove, Megan L ML; Morrison, Alanna C AC; Qi, Qibin Q; Daviglus, Martha M; Cai, Jianwen J; North, Kari E KE; Laurie, Cathy C CC; Kaplan, Robert C RC; Boerwinkle, Eric E; Yu, Bing B
Publication Date: 2020-11-05

Variant appearance in text: rs406383
PubMed Link: 33031748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.

Bmc Medical Genetics
Pangilinan, Faith F; Molloy, Anne M AM; Mills, James L JL; Troendle, James F JF; Parle-McDermott, Anne A; Signore, Caroline C; O'Leary, Valerie B VB; Chines, Peter P; Seay, Jessica M JM; Geiler-Samerotte, Kerry K; Mitchell, Adam A; VanderMeer, Julia E JE; Krebs, Kristine M KM; Sanchez, Angelica A; Cornman-Homonoff, Joshua J; Stone, Nicole N; Conley, Mary M; Kirke, Peadar N PN; Shane, Barry B; Scott, John M JM; Brody, Lawrence C LC
Publication Date: 2012-08-02

Variant appearance in text: rs406383
PubMed Link: 22856873
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-62.pdf
View BVdb publication page