CRHR1 c.771-49G>A

Variant ID: 17-43910455-G-A

NM_004382.4(CRHR1):c.771-49G>A

This variant was identified in 19 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: rs17689966
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



A Multi-Trait Association Analysis of Brain Disorders and Platelet Traits Identifies Novel Susceptibility Loci for Major Depression, Alzheimer's and Parkinson's Disease.

Cells
Tirozzi, Alfonsina A; Quiccione, Miriam Shasa MS; Cerletti, Chiara C; Donati, Maria Benedetta MB; de Gaetano, Giovanni G; Iacoviello, Licia L; Gialluisi, Alessandro A
Publication Date: 2023-01-06

Variant appearance in text: rs17689966
PubMed Link: 36672180
Variant Present in the following documents:
  • cells-12-00245.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs17689966
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs17689966
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs17689966
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CRHR1: 771-49G>A; rs17689966
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs17689966
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pharmacogenomic Response of Inhaled Corticosteroids for the Treatment of Asthma: Considerations for Therapy.

Pharmacogenomics And Personalized Medicine
Cazzola, Mario M; Rogliani, Paola P; Calzetta, Luigino L; Matera, Maria Gabriella MG
Publication Date: 2020

Variant appearance in text: rs17689966
PubMed Link: 32801837
Variant Present in the following documents:
  • Main text
  • pgpm-13-261.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: rs17689966
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Replication in Imaging Genetics: The Case of Threat-Related Amygdala Reactivity.

Biological Psychiatry
Avinun, Reut R; Nevo, Adam A; Knodt, Annchen R AR; Elliott, Maxwell L ML; Hariri, Ahmad R AR
Publication Date: 2018-07-15

Variant appearance in text: rs17689966
PubMed Link: 29279201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Don't stress about CRF: assessing the translational failures of CRF1antagonists.

Psychopharmacology
Spierling, Samantha R SR; Zorrilla, Eric P EP
Publication Date: 2017-05

Variant appearance in text: rs17689966
PubMed Link: 28265716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiological support for genetic variability at hypothalamic-pituitary-adrenal axis and serotonergic system as risk factors for major depression.

Neuropsychiatric Disease And Treatment
Ching-López, Ana A; Cervilla, Jorge J; Rivera, Margarita M; Molina, Esther E; McKenney, Kathryn K; Ruiz-Perez, Isabel I; Rodríguez-Barranco, Miguel M; Gutiérrez, Blanca B
Publication Date: 2015

Variant appearance in text: rs17689966
PubMed Link: 26543368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of polymorphisms of the CRHR1 gene with infantile spasms.

Molecular Medicine Reports
Yang, Guang G; Zou, Li-Ping LP; Wang, Jing J; Shi, Xiu-Yu XY; Yang, Xiao-Fan XF; Wang, Bin B; Liu, Yu-Jie YJ; Sun, Yan-Hong YH; Jia, Fei-Yong FY
Publication Date: 2015-08

Variant appearance in text: rs17689966
PubMed Link: 25954915
Variant Present in the following documents:
  • Main text
  • mmr-12-02-2539.pdf
View BVdb publication page



Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One
Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F
Publication Date: 2014

Variant appearance in text: rs17689966
PubMed Link: 25144376
Variant Present in the following documents:
  • pone.0105723.s013.xlsx, sheet 2
View BVdb publication page



Indirect effect of corticotropin-releasing hormone receptor 1 gene variation on negative emotionality and alcohol use via right ventrolateral prefrontal cortex.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Glaser, Yi G YG; Zubieta, Jon-Kar JK; Hsu, David T DT; Villafuerte, Sandra S; Mickey, Brian J BJ; Trucco, Elisa M EM; Burmeister, Margit M; Zucker, Robert A RA; Heitzeg, Mary M MM
Publication Date: 2014-03-12

Variant appearance in text: rs17689966
PubMed Link: 24623788
Variant Present in the following documents:
  • Main text
View BVdb publication page



HPA axis genetic variation, cortisol and psychosis in major depression.

Molecular Psychiatry
Schatzberg, A F AF; Keller, J J; Tennakoon, L L; Lembke, A A; Williams, G G; Kraemer, F B FB; Sarginson, J E JE; Lazzeroni, L C LC; Murphy, G M GM
Publication Date: 2014-02

Variant appearance in text: rs17689966
PubMed Link: 24166410
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of CRHR1 variants and posttraumatic stress symptoms in hurricane exposed adults.

Journal Of Anxiety Disorders
White, Simone S; Acierno, Ron R; Ruggiero, Kenneth J KJ; Koenen, Karestan C KC; Kilpatrick, Dean G DG; Galea, Sandro S; Gelernter, Joel J; Williamson, Vernell V; McMichael, Omari O; Vladimirov, Vladimir I VI; Amstadter, Ananda B AB
Publication Date: 2013-10

Variant appearance in text: rs17689966
PubMed Link: 24077033
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CRHR1 gene, trauma exposure, and alcoholism risk: a test of G × E effects.

Genes, Brain, And Behavior
Ray, L A LA; Sehl, M M; Bujarski, S S; Hutchison, K K; Blaine, S S; Enoch, M-A MA
Publication Date: 2013-06

Variant appearance in text: rs17689966
PubMed Link: 23473364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.

Human Molecular Genetics
Briggs, Farren B S FB; Bartlett, Selena E SE; Goldstein, Benjamin A BA; Wang, Joanne J; McCauley, Jacob L JL; Zuvich, Rebecca L RL; De Jager, Philip L PL; Rioux, John D JD; Ivinson, Adrian J AJ; Compston, Alastair A; Hafler, David A DA; Hauser, Stephen L SL; Oksenberg, Jorge R JR; Sawcer, Stephen J SJ; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; , ; Barcellos, Lisa F LF
Publication Date: 2010-11-01

Variant appearance in text: rs17689966
PubMed Link: 20699326
Variant Present in the following documents:
  • Main text
View BVdb publication page