ETF1 c.403-1797G>T

Variant ID: 5-137851192-C-A

NM_004730.3(ETF1):c.403-1797G>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease Markers
Perfilyeva, Anastassiya A; Bespalova, Kira K; Perfilyeva, Yuliya Y; Skvortsova, Liliya L; Musralina, Lyazzat L; Zhunussova, Gulnur G; Khussainova, Elmira E; Iskakova, Ulzhan U; Bekmanov, Bakhytzhan B; Djansugurova, Leyla L
Publication Date: 2022

Variant appearance in text: rs3849046
PubMed Link: 36199823
Variant Present in the following documents:
  • DM2022-1509994.pdf
View BVdb publication page



Correlated expression analysis of genes implicated in schizophrenia: identification of putative disease-related pathways.

New Horizons In Translational Medicine
Liedtke, Erin I EI; Zhang, Sirey S; Thompson, John A JA; Sillau, Stefan S; Gault, Judith J
Publication Date: 2017-01

Variant appearance in text: rs3849046
PubMed Link: 32864408
Variant Present in the following documents:
  • Main text
View BVdb publication page



CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

Plos One
Addepalli, Aditya A; Kalyani, Sakhare S; Singh, Minali M; Bandyopadhyay, Debashree D; Mohan, K Naga KN
Publication Date: 2020

Variant appearance in text: rs3849046
PubMed Link: 31995602
Variant Present in the following documents:
  • Main text
  • pone.0228156.pdf
View BVdb publication page



Target Genes of Autism Risk Loci in Brain Frontal Cortex.

Frontiers In Genetics
Sun, Yan Y; Yao, Xueming X; March, Michael E ME; Meng, Xinyi X; Li, Junyi J; Wei, Zhi Z; Sleiman, Patrick M A PMA; Hakonarson, Hakon H; Xia, Qianghua Q; Li, Jin J
Publication Date: 2019

Variant appearance in text: rs3849046
PubMed Link: 31447881
Variant Present in the following documents:
  • Main text
  • fgene-10-00707.pdf
View BVdb publication page



A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data.

Nature Neuroscience
Wang, Quan Q; Chen, Rui R; Cheng, Feixiong F; Wei, Qiang Q; Ji, Ying Y; Yang, Hai H; Zhong, Xue X; Tao, Ran R; Wen, Zhexing Z; Sutcliffe, James S JS; Liu, Chunyu C; Cook, Edwin H EH; Cox, Nancy J NJ; Li, Bingshan B
Publication Date: 2019-05

Variant appearance in text: rs3849046
PubMed Link: 30988527
Variant Present in the following documents:
  • NIHMS1523940-supplement-3.pdf
View BVdb publication page



Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

Nature Communications
Dashti, Hassan S HS; Jones, Samuel E SE; Wood, Andrew R AR; Lane, Jacqueline M JM; van Hees, Vincent T VT; Wang, Heming H; Rhodes, Jessica A JA; Song, Yanwei Y; Patel, Krunal K; Anderson, Simon G SG; Beaumont, Robin N RN; Bechtold, David A DA; Bowden, Jack J; Cade, Brian E BE; Garaulet, Marta M; Kyle, Simon D SD; Little, Max A MA; Loudon, Andrew S AS; Luik, Annemarie I AI; Scheer, Frank A J L FAJL; Spiegelhalder, Kai K; Tyrrell, Jessica J; Gottlieb, Daniel J DJ; Tiemeier, Henning H; Ray, David W DW; Purcell, Shaun M SM; Frayling, Timothy M TM; Redline, Susan S; Lawlor, Deborah A DA; Rutter, Martin K MK; Weedon, Michael N MN; Saxena, Richa R
Publication Date: 2019-03-07

Variant appearance in text: rs3849046
PubMed Link: 30846698
Variant Present in the following documents:
  • 41467_2019_Article_8917.pdf
View BVdb publication page



Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis.

Nature Neuroscience
Jaffe, Andrew E AE; Straub, Richard E RE; Shin, Joo Heon JH; Tao, Ran R; Gao, Yuan Y; Collado-Torres, Leonardo L; Kam-Thong, Tony T; Xi, Hualin S HS; Quan, Jie J; Chen, Qiang Q; Colantuoni, Carlo C; Ulrich, William S WS; Maher, Brady J BJ; Deep-Soboslay, Amy A; , ; Cross, Alan J AJ; Brandon, Nicholas J NJ; Leek, Jeffrey T JT; Hyde, Thomas M TM; Kleinman, Joel E JE; Weinberger, Daniel R DR
Publication Date: 2018-08

Variant appearance in text: rs3849046
PubMed Link: 30050107
Variant Present in the following documents:
  • Main text
  • nihms-977823.pdf
View BVdb publication page



Immediate Early Genes Anchor a Biological Pathway of Proteins Required for Memory Formation, Long-Term Depression and Risk for Schizophrenia.

Frontiers In Behavioral Neuroscience
Marballi, Ketan K KK; Gallitano, Amelia L AL
Publication Date: 2018

Variant appearance in text: rs3849046
PubMed Link: 29520222
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Variability of 128 schizophrenia-associated gene variants across distinct ethnic populations.

Translational Psychiatry
Ohi, K K; Shimada, T T; Yasuyama, T T; Uehara, T T; Kawasaki, Y Y
Publication Date: 2017-01-03

Variant appearance in text: rs3849046
PubMed Link: 28045464
Variant Present in the following documents:
View BVdb publication page



Genome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases.

Schizophrenia Bulletin
Pouget, Jennie G JG; Gonçalves, Vanessa F VF; , ; Spain, Sarah L SL; Finucane, Hilary K HK; Raychaudhuri, Soumya S; Kennedy, James L JL; Knight, Jo J
Publication Date: 2016-09

Variant appearance in text: rs3849046
PubMed Link: 27242348
Variant Present in the following documents:
  • Main text
  • sbw059.pdf
View BVdb publication page



DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts.

Bioinformatics (Oxford, England)
Lee, Donghyung D; Bigdeli, T Bernard TB; Williamson, Vernell S VS; Vladimirov, Vladimir I VI; Riley, Brien P BP; Fanous, Ayman H AH; Bacanu, Silviu-Alin SA
Publication Date: 2015-10-01

Variant appearance in text: rs3849046
PubMed Link: 26059716
Variant Present in the following documents:
  • supp_btv348_distmix_supplementary_data.pdf
View BVdb publication page