HERC2 c.12230+106A>T

Variant ID: 15-28380518-T-A

NM_004667.5(HERC2):c.12230+106A>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Investigating the genetic architecture of eye colour in a Canadian cohort.

Iscience
Lona-Durazo, Frida F; Thakur, Rohit R; Pairo-Castineira, Erola E; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Jackson, Ian J IJ; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2022-06-17

Variant appearance in text: rs4778249
PubMed Link: 35712076
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.

Bmc Genomics
Balanovska, Elena E; Lukianova, Elena E; Kagazezheva, Janet J; Maurer, Andrey A; Leybova, Natalia N; Agdzhoyan, Anastasiya A; Gorin, Igor I; Petrushenko, Valeria V; Zhabagin, Maxat M; Pylev, Vladimir V; Kostryukova, Elena E; Balanovsky, Oleg O
Publication Date: 2020-09-10

Variant appearance in text: rs4778249
PubMed Link: 32912208
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_6923.pdf
View BVdb publication page



Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Bmc Genetics
Lona-Durazo, Frida F; Hernandez-Pacheco, Natalia N; Fan, Shaohua S; Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Loftus, Stacie K SK; Le, Phuong P; Edwards, Melissa M; Fortes-Lima, Cesar A CA; Eng, Celeste C; Huntsman, Scott S; Hu, Donglei D; Gómez-Cabezas, Enrique Javier EJ; Marín-Padrón, Lilia Caridad LC; Grauholm, Jonas J; Mors, Ole O; Burchard, Esteban G EG; Norton, Heather L HL; Pavan, William J WJ; Brown, Kevin M KM; Tishkoff, Sarah S; Pino-Yanes, Maria M; Beleza, Sandra S; Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ
Publication Date: 2019-07-17

Variant appearance in text: rs4778249
PubMed Link: 31315583
Variant Present in the following documents:
  • Main text
  • 12863_2019_Article_765.pdf
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: rs4778249
PubMed Link: 30664655
Variant Present in the following documents:
  • Main text
  • 41467_2018_8147_MOESM1_ESM.pdf
  • 41467_2018_Article_8147.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: HERC2: 12230+106A>T; rs4778249
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



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4778249
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs4778249
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page