GPNMB c.429C>G ;(p.D143E)

Variant ID: 7-23296572-C-G

NM_002510.2(GPNMB):c.429C>G;(p.D143E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs199354
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.

Plos One
Pendergrass, Sarah A SA; Buyske, Steven S; Jeff, Janina M JM; Frase, Alex A; Dudek, Scott S; Bradford, Yuki Y; Ambite, Jose-Luis JL; Avery, Christy L CL; Buzkova, Petra P; Deelman, Ewa E; Fesinmeyer, Megan D MD; Haiman, Christopher C; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsu, Chun-Nan CN; Jackson, Rebecca D RD; Lin, Yi Y; Le Marchand, Loic L; Matise, Tara C TC; Monroe, Kristine R KR; Moreland, Larry L; North, Kari E KE; Park, Sungshim L SL; Reiner, Alex A; Wallace, Robert R; Wilkens, Lynne R LR; Kooperberg, Charles C; Ritchie, Marylyn D MD; Crawford, Dana C DC
Publication Date: 2019

Variant appearance in text: rs199354
PubMed Link: 31891604
Variant Present in the following documents:
  • Main text
  • pone.0226771.pdf
View BVdb publication page