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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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