ATP8B4 c.363-5836T>C

Variant ID: 15-50308950-A-G

NM_024837.3(ATP8B4):c.363-5836T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs8033655
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A
Publication Date: 2019-01-21

Variant appearance in text: rs8033655
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Identification of a novel locus associated with skin colour in African-admixed populations.

Scientific Reports
Hernandez-Pacheco, Natalia N; Flores, Carlos C; Alonso, Santos S; Eng, Celeste C; Mak, Angel C Y AC; Hunstman, Scott S; Hu, Donglei D; White, Marquitta J MJ; Oh, Sam S SS; Meade, Kelley K; Farber, Harold J HJ; Avila, Pedro C PC; Serebrisky, Denise D; Thyne, Shannon M SM; Brigino-Buenaventura, Emerita E; Rodriguez-Cintron, William W; Sen, Saunak S; Kumar, Rajesh R; Lenoir, Michael M; Rodriguez-Santana, Jose R JR; Burchard, Esteban G EG; Pino-Yanes, Maria M
Publication Date: 2017-03-16

Variant appearance in text: rs8033655
PubMed Link: 28300201
Variant Present in the following documents:
  • Main text
  • srep44548.pdf
View BVdb publication page