SPIRE2 c.289-321G>A

Variant ID: 16-89916391-G-A

NM_032451.1(SPIRE2):c.289-321G>A

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: SPIRE2: 289-321G>A; rs12932219
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature Communications
Visconti, Alessia A; Duffy, David L DL; Liu, Fan F; Zhu, Gu G; Wu, Wenting W; Chen, Yan Y; Hysi, Pirro G PG; Zeng, Changqing C; Sanna, Marianna M; Iles, Mark M MM; Kanetsky, Peter A PA; Demenais, Florence F; Hamer, Merel A MA; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Nijsten, Tamar T; Martin, Nicholas G NG; Kayser, Manfred M; Spector, Tim D TD; Han, Jiali J; Bataille, Veronique V; Falchi, Mario M
Publication Date: 2018-05-08

Variant appearance in text: rs12932219
PubMed Link: 29739929
Variant Present in the following documents:
  • 41467_2018_4086_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs12932219
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page