PAFAH1B1 c.569-1128G>A

Variant ID: 17-2574821-G-A

NM_000430.3(PAFAH1B1):c.569-1128G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits.

Psychiatric Genetics
Castellini, Giovanni G; Merola, Giuseppe Pierpaolo GP; Baccaredda, Ottone Boy OB; Pecoraro, Vincenzo V; Bozza, Bernardo B; Cassioli, Emanuele E; Rossi, Eleonora E; Bessi, Valentina V; Sorbi, Sandro S; Nacmias, Benedetta B; Ricca, Valdo V
Publication Date: 2022-12-20

Variant appearance in text: rs12938775
PubMed Link: 36729042
Variant Present in the following documents:
  • Main text
  • pg-33-79.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: rs12938775
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Communications Biology
Praveen, Kavita K; Dobbyn, Lee L; Gurski, Lauren L; Ayer, Ariane H AH; Staples, Jeffrey J; Mishra, Shawn S; Bai, Yu Y; Kaufman, Alexandra A; Moscati, Arden A; Benner, Christian C; Chen, Esteban E; Chen, Siying S; Popov, Alexander A; Smith, Janell J; , ; , ; , ; Melander, Olle O; Jones, Marcus B MB; Marchini, Jonathan J; Balasubramanian, Suganthi S; Zambrowicz, Brian B; Drummond, Meghan C MC; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A MA; Stahl, Eli A EA; Coppola, Giovanni G
Publication Date: 2022-06-03

Variant appearance in text: rs12938775
PubMed Link: 35661827
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3408.pdf
  • 42003_2022_3408_MOESM1_ESM.pdf
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GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.

American Journal Of Human Genetics
Wells, Helena R R HRR; Freidin, Maxim B MB; Zainul Abidin, Fatin N FN; Payton, Antony A; Dawes, Piers P; Munro, Kevin J KJ; Morton, Cynthia C CC; Moore, David R DR; Dawson, Sally J SJ; Williams, Frances M K FMK
Publication Date: 2019-10-03

Variant appearance in text: rs12938775
PubMed Link: 31564434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leveraging brain cortex-derived molecular data to elucidate epigenetic and transcriptomic drivers of complex traits and disease.

Translational Psychiatry
Hatcher, Charlie C; Relton, Caroline L CL; Gaunt, Tom R TR; Richardson, Tom G TG
Publication Date: 2019-02-28

Variant appearance in text: rs12938775
PubMed Link: 30820025
Variant Present in the following documents:
  • Main text
  • 41398_2019_Article_437.pdf
View BVdb publication page



Item-level analyses reveal genetic heterogeneity in neuroticism.

Nature Communications
Nagel, Mats M; Watanabe, Kyoko K; Stringer, Sven S; Posthuma, Danielle D; van der Sluis, Sophie S
Publication Date: 2018-03-02

Variant appearance in text: rs12938775
PubMed Link: 29500382
Variant Present in the following documents:
  • 41467_2018_3242_MOESM2_ESM.pdf
View BVdb publication page



The genetics of human personality.

Genes, Brain, And Behavior
Sanchez-Roige, S S; Gray, J C JC; MacKillop, J J; Chen, C-H CH; Palmer, A A AA
Publication Date: 2018-03

Variant appearance in text: rs12938775
PubMed Link: 29152902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs12938775
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



DISC1-binding proteins in neural development, signalling and schizophrenia.

Neuropharmacology
Bradshaw, Nicholas J NJ; Porteous, David J DJ
Publication Date: 2012-03

Variant appearance in text: rs12938775
PubMed Link: 21195721
Variant Present in the following documents:
  • Main text
View BVdb publication page