KANSL1 c.1290-17000T>C

Variant ID: 17-44189067-A-G

NM_015443.3(KANSL1):c.1290-17000T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


COVID-19 genetic risk variants are associated with expression of multiple genes in diverse immune cell types.

Nature Communications
Schmiedel, Benjamin J BJ; Rocha, Job J; Gonzalez-Colin, Cristian C; Bhattacharyya, Sourya S; Madrigal, Ariel A; Ottensmeier, Christian H CH; Ay, Ferhat F; Chandra, Vivek V; Vijayanand, Pandurangan P
Publication Date: 2021-11-19

Variant appearance in text: rs7225002
PubMed Link: 34799557
Variant Present in the following documents:
  • 41467_2021_Article_26888.pdf
View BVdb publication page



COVID-19 genetic risk variants are associated with expression of multiple genes in diverse immune cell types.

Nature Communications
Schmiedel, Benjamin J BJ; Rocha, Job J; Gonzalez-Colin, Cristian C; Bhattacharyya, Sourya S; Madrigal, Ariel A; Ottensmeier, Christian H CH; Ay, Ferhat F; Chandra, Vivek V; Vijayanand, Pandurangan P
Publication Date: 2021-11-19

Variant appearance in text: rs7225002
PubMed Link: 34799557
Variant Present in the following documents:
  • 41467_2021_Article_26888.pdf
View BVdb publication page



SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues.

Cell Reports
D'Antonio, Matteo M; Nguyen, Jennifer P JP; Arthur, Timothy D TD; Matsui, Hiroko H; , ; D'Antonio-Chronowska, Agnieszka A; Frazer, Kelly A KA
Publication Date: 2021-11-16

Variant appearance in text: rs7225002
PubMed Link: 34762851
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity.

Medrxiv : The Preprint Server For Health Sciences
D'Antonio, Matteo M; , ; Arthur, Timothy D TD; Nguyen, Jennifer P JP; Matsui, Hiroko H; D'Antonio-Chronowska, Agnieszka A; Frazer, Kelly A KA
Publication Date: 2021-05-12

Variant appearance in text: rs7225002
PubMed Link: 34013287
Variant Present in the following documents:
  • Main text
  • nihpp-2021.05.10.21256423v1.pdf
View BVdb publication page



Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Nature Genetics
Höglinger, Günter U GU; Melhem, Nadine M NM; Dickson, Dennis W DW; Sleiman, Patrick M A PM; Wang, Li-San LS; Klei, Lambertus L; Rademakers, Rosa R; de Silva, Rohan R; Litvan, Irene I; Riley, David E DE; van Swieten, John C JC; Heutink, Peter P; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Vandrovcova, Jana J; Hurtig, Howard I HI; Gross, Rachel G RG; Maetzler, Walter W; Goldwurm, Stefano S; Tolosa, Eduardo E; Borroni, Barbara B; Pastor, Pau P; , ; Cantwell, Laura B LB; Han, Mi Ryung MR; Dillman, Allissa A; van der Brug, Marcel P MP; Gibbs, J Raphael JR; Cookson, Mark R MR; Hernandez, Dena G DG; Singleton, Andrew B AB; Farrer, Matthew J MJ; Yu, Chang-En CE; Golbe, Lawrence I LI; Revesz, Tamas T; Hardy, John J; Lees, Andrew J AJ; Devlin, Bernie B; Hakonarson, Hakon H; Müller, Ulrich U; Schellenberg, Gerard D GD
Publication Date: 2011-06-19

Variant appearance in text: rs7225002
PubMed Link: 21685912
Variant Present in the following documents:
  • NIHMS297077-supplement-1.pdf
View BVdb publication page



Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

European Journal Of Human Genetics : Ejhg
Ferreira, Manuel A R MA; McRae, Allan F AF; Medland, Sarah E SE; Nyholt, Dale R DR; Gordon, Scott D SD; Wright, Margaret J MJ; Henders, Anjali K AK; Madden, Pamela A PA; Visscher, Peter M PM; Wray, Naomi R NR; Heath, Andrew C AC; Montgomery, Grant W GW; Duffy, David L DL; Martin, Nicholas G NG
Publication Date: 2011-04

Variant appearance in text: rs7225002
PubMed Link: 21150878
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

Neurology
Tobin, J E JE; Latourelle, J C JC; Lew, M F MF; Klein, C C; Suchowersky, O O; Shill, H A HA; Golbe, L I LI; Mark, M H MH; Growdon, J H JH; Wooten, G F GF; Racette, B A BA; Perlmutter, J S JS; Watts, R R; Guttman, M M; Baker, K B KB; Goldwurm, S S; Pezzoli, G G; Singer, C C; Saint-Hilaire, M H MH; Hendricks, A E AE; Williamson, S S; Nagle, M W MW; Wilk, J B JB; Massood, T T; Laramie, J M JM; DeStefano, A L AL; Litvan, I I; Nicholson, G G; Corbett, A A; Isaacson, S S; Burn, D J DJ; Chinnery, P F PF; Pramstaller, P P PP; Sherman, S S; Al-hinti, J J; Drasby, E E; Nance, M M; Moller, A T AT; Ostergaard, K K; Roxburgh, R R; Snow, B B; Slevin, J T JT; Cambi, F F; Gusella, J F JF; Myers, R H RH
Publication Date: 2008-07-01

Variant appearance in text: rs7225002
PubMed Link: 18509094
Variant Present in the following documents:
  • Main text
View BVdb publication page