KIT c.67+13233C>G

Variant ID: 4-55537481-C-G

NM_000222.2(KIT):c.67+13233C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs759083
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.

Plos One
Ibarrola-Villava, Maider M; Fernandez, Lara P LP; Alonso, Santos S; Boyano, M Dolores MD; Peña-Chilet, Maria M; Pita, Guillermo G; Aviles, Jose A JA; Mayor, Matias M; Gomez-Fernandez, Cristina C; Casado, Beatriz B; Martin-Gonzalez, Manuel M; Izagirre, Neskuts N; De la Rua, Concepcion C; Asumendi, Aintzane A; Perez-Yarza, Gorka G; Arroyo-Berdugo, Yoana Y; Boldo, Enrique E; Lozoya, Rafael R; Torrijos-Aguilar, Arantxa A; Pitarch, Ana A; Pitarch, Gerard G; Sanchez-Motilla, Jose M JM; Valcuende-Cavero, Francisca F; Tomas-Cabedo, Gloria G; Perez-Pastor, Gemma G; Diaz-Perez, Jose L JL; Gardeazabal, Jesus J; Martinez de Lizarduy, Iñigo I; Sanchez-Diez, Ana A; Valdes, Carlos C; Pizarro, Angel A; Casado, Mariano M; Carretero, Gregorio G; Botella-Estrada, Rafael R; Nagore, Eduardo E; Lazaro, Pablo P; Lluch, Ana A; Benitez, Javier J; Martinez-Cadenas, Conrado C; Ribas, Gloria G
Publication Date: 2011-04-29

Variant appearance in text: rs759083
PubMed Link: 21559390
Variant Present in the following documents:
  • Main text
  • pone.0019271.pdf
View BVdb publication page