PAPPA2 c.5203-15243G>A

Variant ID: 1-176794066-G-A

NM_020318.2(PAPPA2):c.5203-15243G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Your height affects your health: genetic determinants and health-related outcomes in Taiwan.

Bmc Medicine
Chiou, Jian-Shiun JS; Cheng, Chi-Fung CF; Liang, Wen-Miin WM; Chou, Chen-Hsing CH; Wang, Chung-Hsing CH; Lin, Wei-De WD; Chiu, Mu-Lin ML; Cheng, Wei-Chung WC; Lin, Cheng-Wen CW; Lin, Ting-Hsu TH; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Chang-Hai CH; Lin, Ying-Ju YJ; Tsai, Fuu-Jen FJ
Publication Date: 2022-07-13

Variant appearance in text: rs1325596
PubMed Link: 35831902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-eQTLs identified in whole blood have limited influence on complex disease biology.

European Journal Of Human Genetics : Ejhg
Yap, Chloe X CX; Lloyd-Jones, Luke L; Holloway, Alexander A; Smartt, Peter P; Wray, Naomi R NR; Gratten, Jacob J; Powell, Joseph E JE
Publication Date: 2018-09

Variant appearance in text: rs1325596
PubMed Link: 29891877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Embo Molecular Medicine
Dauber, Andrew A; Muñoz-Calvo, María T MT; Barrios, Vicente V; Domené, Horacio M HM; Kloverpris, Soren S; Serra-Juhé, Clara C; Desikan, Vardhini V; Pozo, Jesús J; Muzumdar, Radhika R; Martos-Moreno, Gabriel Á GÁ; Hawkins, Federico F; Jasper, Héctor G HG; Conover, Cheryl A CA; Frystyk, Jan J; Yakar, Shoshana S; Hwa, Vivian V; Chowen, Julie A JA; Oxvig, Claus C; Rosenfeld, Ron G RG; Pérez-Jurado, Luis A LA; Argente, Jesús J
Publication Date: 2016-04-01

Variant appearance in text: rs1325596
PubMed Link: 26902202
Variant Present in the following documents:
  • Main text
  • EMMM-8-363.pdf
View BVdb publication page