CERS5 c.637-119T>C

Variant ID: 12-50529971-A-G

NM_147190.2(CERS5):c.637-119T>C

This variant was identified in 4 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: CERS5: 637-119T>C; rs11169282
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population.

Biomedical Reports
Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y
Publication Date: 2018-08

Variant appearance in text: rs11169282
PubMed Link: 29963304
Variant Present in the following documents:
  • Main text
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: rs11169282
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.

Nature Communications
Jäger, Roland R; Migliorini, Gabriele G; Henrion, Marc M; Kandaswamy, Radhika R; Speedy, Helen E HE; Heindl, Andreas A; Whiffin, Nicola N; Carnicer, Maria J MJ; Broome, Laura L; Dryden, Nicola N; Nagano, Takashi T; Schoenfelder, Stefan S; Enge, Martin M; Yuan, Yinyin Y; Taipale, Jussi J; Fraser, Peter P; Fletcher, Olivia O; Houlston, Richard S RS
Publication Date: 2015-02-19

Variant appearance in text: rs11169282
PubMed Link: 25695508
Variant Present in the following documents:
  • ncomms7178-s1.pdf
View BVdb publication page