KANSL1 c.741A>T ;(p.R247S)

Variant ID: 17-44248769-T-A

NM_015443.3(KANSL1):c.741A>T;(p.R247S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

Nature Communications
Young, William J WJ; Haessler, Jeffrey J; Benjamins, Jan-Walter JW; Repetto, Linda L; Yao, Jie J; Isaacs, Aaron A; Harper, Andrew R AR; Ramirez, Julia J; Garnier, Sophie S; van Duijvenboden, Stefan S; Baldassari, Antoine R AR; Concas, Maria Pina MP; Duong, ThuyVy T; Foco, Luisa L; Isaksen, Jonas L JL; Mei, Hao H; Noordam, Raymond R; Nursyifa, Casia C; Richmond, Anne A; Santolalla, Meddly L ML; Sitlani, Colleen M CM; Soroush, Negin N; Thériault, Sébastien S; Trompet, Stella S; Aeschbacher, Stefanie S; Ahmadizar, Fariba F; Alonso, Alvaro A; Brody, Jennifer A JA; Campbell, Archie A; Correa, Adolfo A; Darbar, Dawood D; De Luca, Antonio A; Deleuze, Jean-François JF; Ellervik, Christina C; Fuchsberger, Christian C; Goel, Anuj A; Grace, Christopher C; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Jackson, Rebecca D RD; Kors, Jan A JA; Lima-Costa, Maria Fernanda MF; Linneberg, Allan A; Macfarlane, Peter W PW; Morrison, Alanna C AC; Navarro, Pau P; Porteous, David J DJ; Pramstaller, Peter P PP; Reiner, Alexander P AP; Risch, Lorenz L; Schotten, Ulrich U; Shen, Xia X; Sinagra, Gianfranco G; Soliman, Elsayed Z EZ; Stoll, Monika M; Tarazona-Santos, Eduardo E; Tinker, Andrew A; Trajanoska, Katerina K; Villard, Eric E; Warren, Helen R HR; Whitsel, Eric A EA; Wiggins, Kerri L KL; Arking, Dan E DE; Avery, Christy L CL; Conen, David D; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Olesen, Morten Salling MS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Pattaro, Cristian C; Ribeiro, Antonio Luiz P ALP; Rotter, Jerome I JI; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James G JG; Orini, Michele M; Charron, Philippe P; Watkins, Hugh H; Kooperberg, Charles C; Lin, Henry J HJ; Wilson, James F JF; Kanters, Jørgen K JK; Sotoodehnia, Nona N; Mifsud, Borbala B; Lambiase, Pier D PD; Tereshchenko, Larisa G LG; Munroe, Patricia B PB
Publication Date: 2023-03-14

Variant appearance in text: KANSL1: 741A>T; Arg247Ser
PubMed Link: 36918541
Variant Present in the following documents:
  • 41467_2023_36997_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease.

Scientific Reports
Valente, André X C N AX; Shin, Joo H JH; Sarkar, Abhijit A; Gao, Yuan Y
Publication Date: 2012

Variant appearance in text: rs1881193
PubMed Link: 22355768
Variant Present in the following documents:
  • Main text
View BVdb publication page