APP c.1091-227A>G

Variant ID: 21-27355017-T-C

NM_000484.3(APP):c.1091-227A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: APP: 1091-227A>G; rs2070657
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
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APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.

Journal Of Alzheimer'S Disease : Jad
Peuralinna, Terhi T; Tanskanen, Maarit M; Mäkelä, Mira M; Polvikoski, Tuomo T; Paetau, Anders A; Kalimo, Hannu H; Sulkava, Raimo R; Hardy, John J; Lai, Shiao-Lin SL; Arepalli, Sampath S; Hernandez, Dena D; Traynor, Bryan J BJ; Singleton, Andrew A; Tienari, Pentti J PJ; Myllykangas, Liisa L
Publication Date: 2011

Variant appearance in text: rs2070657
PubMed Link: 21654062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.

Plos Genetics
Igl, Wilmar W; Johansson, Asa A; Wilson, James F JF; Wild, Sarah H SH; Polasek, Ozren O; Hayward, Caroline C; Vitart, Veronique V; Hastie, Nicholas N; Rudan, Pavao P; Gnewuch, Carsten C; Schmitz, Gerd G; Meitinger, Thomas T; Pramstaller, Peter P PP; Hicks, Andrew A AA; Oostra, Ben A BA; van Duijn, Cornelia M CM; Rudan, Igor I; Wright, Alan A; Campbell, Harry H; Gyllensten, Ulf U; ,
Publication Date: 2010-01

Variant appearance in text: rs2070657
PubMed Link: 20066028
Variant Present in the following documents:
  • Main text
  • pgen.1000798.pdf
View BVdb publication page