MMEL1 c.1041+345C>T

Variant ID: 1-2534978-G-A

NM_033467.3(MMEL1):c.1041+345C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs6664969
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Genome Medicine
Márquez, Ana A; Kerick, Martin M; Zhernakova, Alexandra A; Gutierrez-Achury, Javier J; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; González-Álvaro, Isidoro I; Rodriguez-Rodriguez, Luis L; Rios-Fernández, Raquel R; González-Gay, Miguel A MA; , ; , ; , ; , ; Mayes, Maureen D MD; Raychaudhuri, Soumya S; Rich, Stephen S SS; Wijmenga, Cisca C; Martín, Javier J
Publication Date: 2018-12-20

Variant appearance in text: rs6664969
PubMed Link: 30572963
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_604.pdf
View BVdb publication page



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: MMEL1: 1041+345C>T; rs6664969
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page