RYR1 c.10440+235T>C

Variant ID: 19-39014184-T-C

NM_000540.2(RYR1):c.10440+235T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.

Bmc Genomic Data
Mezzavilla, Massimo M; Cocca, Massimiliano M; Maisano Delser, Pierpaolo P; Badii, Ramin R; Abbaszadeh, Fatemeh F; Hadi, Khalid Abdul KA; Giorgia, Girotto G; Gasparini, Paolo P
Publication Date: 2022-09-21

Variant appearance in text: rs3786829
PubMed Link: 36131251
Variant Present in the following documents:
  • Main text
  • 12863_2022_Article_1087.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: RYR1: 10440+235T>C; rs3786829
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3786829
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of maternal genetic effects and parent-of-origin effects on food allergy.

Medicine
Liu, Xin X; Hong, Xiumei X; Tsai, Hui-Ju HJ; Mestan, Karen K KK; Shi, Min M; Kefi, Amira A; Hao, Ke K; Chen, Qi Q; Wang, Guoying G; Caruso, Deanna D; Geng, Hua H; Gao, Yufeng Y; He, Jianlin J; Kumar, Rajesh R; Wang, Hongjian H; Yu, Yunxian Y; Bartell, Tami T; Tan, Xiao-Di XD; Schleimer, Robert P RP; Weeks, Daniel E DE; Pongracic, Jacqueline A JA; Wang, Xiaobin X
Publication Date: 2018-03

Variant appearance in text: rs3786829
PubMed Link: 29489655
Variant Present in the following documents:
  • medi-97-e0043.pdf
View BVdb publication page