KANSL1 c.1290-15425T>C

Variant ID: 17-44187492-A-G

NM_015443.3(KANSL1):c.1290-15425T>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity.

Frontiers In Genetics
Ho, Daniel D; Schierding, William W; Farrow, Sophie L SL; Cooper, Antony A AA; Kempa-Liehr, Andreas W AW; O'Sullivan, Justin M JM
Publication Date: 2021

Variant appearance in text: rs17577094
PubMed Link: 35047012
Variant Present in the following documents:
  • Main text
  • fgene-12-785436.pdf
View BVdb publication page



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: rs17577094
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.

Frontiers In Genetics
Wallace, Amelia D AD; Wendt, George A GA; Barcellos, Lisa F LF; de Smith, Adam J AJ; Walsh, Kyle M KM; Metayer, Catherine C; Costello, Joseph F JF; Wiemels, Joseph L JL; Francis, Stephen S SS
Publication Date: 2018

Variant appearance in text: rs17577094
PubMed Link: 30154825
Variant Present in the following documents:
  • Main text
  • fgene-09-00298.pdf
View BVdb publication page



DNA-mediated dimerization on a compact sequence signature controls enhancer engagement and regulation by FOXA1.

Nucleic Acids Research
Wang, Xuecong X; Srivastava, Yogesh Y; Jankowski, Aleksander A; Malik, Vikas V; Wei, Yuanjie Y; Del Rosario, Ricardo Ch RC; Cojocaru, Vlad V; Prabhakar, Shyam S; Jauch, Ralf R
Publication Date: 2018-06-20

Variant appearance in text: rs17577094
PubMed Link: 29669022
Variant Present in the following documents:
  • Main text
  • gky259.pdf
View BVdb publication page



Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs17577094
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
View BVdb publication page



Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

Human Molecular Genetics
Vacic, Vladimir V; Ozelius, Laurie J LJ; Clark, Lorraine N LN; Bar-Shira, Anat A; Gana-Weisz, Mali M; Gurevich, Tanya T; Gusev, Alexander A; Kedmi, Merav M; Kenny, Eimear E EE; Liu, Xinmin X; Mejia-Santana, Helen H; Mirelman, Anat A; Raymond, Deborah D; Saunders-Pullman, Rachel R; Desnick, Robert J RJ; Atzmon, Gil G; Burns, Edward R ER; Ostrer, Harry H; Hakonarson, Hakon H; Bergman, Aviv A; Barzilai, Nir N; Darvasi, Ariel A; Peter, Inga I; Guha, Saurav S; Lencz, Todd T; Giladi, Nir N; Marder, Karen K; Pe'er, Itsik I; Bressman, Susan B SB; Orr-Urtreger, Avi A
Publication Date: 2014-09-01

Variant appearance in text: rs17577094
PubMed Link: 24842889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

Bmc Genomics
Macconaill, Laura E LE; Aldred, Micheala A MA; Lu, Xincheng X; Laframboise, Thomas T
Publication Date: 2007-07-03

Variant appearance in text: rs17577094
PubMed Link: 17608949
Variant Present in the following documents:
  • Main text
  • 1471-2164-8-211.pdf
View BVdb publication page



Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics
Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA
Publication Date: 2007-04

Variant appearance in text: rs17577094
PubMed Link: 17357082
Variant Present in the following documents:
  • Main text
View BVdb publication page