DEF8 c.515-827T>C

Variant ID: 16-90026512-T-C

NM_001242818.1(DEF8):c.515-827T>C

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology
Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM
Publication Date: 2022-04-21

Variant appearance in text: rs4268748
PubMed Link: 35449187
Variant Present in the following documents:
  • Main text
  • 42003_2022_3301_MOESM1_ESM.pdf
  • 42003_2022_Article_3301.pdf
View BVdb publication page



Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review
Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2022-03

Variant appearance in text: rs4268748
PubMed Link: 35350227
Variant Present in the following documents:
  • nwab124_supplemental_file.pdf
View BVdb publication page



Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing.

Aging
Xiaoli, Liu L; Fengbin, Hu H; Shihui, Huang H; Xi, Niu N; Sheng, Li L; Zhou, Wang W; Xueqin, Ran R; Jiafu, Wang W
Publication Date: 2021-11-27

Variant appearance in text: rs4268748
PubMed Link: 34837693
Variant Present in the following documents:
  • Main text
  • aging-13-203711.pdf
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Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing.

Aging
Xiaoli, Liu L; Fengbin, Hu H; Shihui, Huang H; Xi, Niu N; Sheng, Li L; Zhou, Wang W; Xueqin, Ran R; Jiafu, Wang W
Publication Date: 2021-11-27

Variant appearance in text: rs4268748
PubMed Link: 34837693
Variant Present in the following documents:
  • Main text
  • aging-13-203711.pdf
View BVdb publication page



A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs4268748
PubMed Link: 34737440
Variant Present in the following documents:
  • 42003_2021_2764_MOESM2_ESM.pdf
View BVdb publication page



Integrative Analysis of Omics Data Reveals Regulatory Network of CDK10 in Vitiligo Risk.

Frontiers In Genetics
Cai, Minglong M; Yuan, Tao T; Huang, He H; Gui, Lan L; Zhang, Li L; Meng, Ziyuan Z; Wu, Wenjuan W; Sheng, Yujun Y; Zhang, Xuejun X
Publication Date: 2021

Variant appearance in text: rs4268748
PubMed Link: 33679896
Variant Present in the following documents:
  • Main text
  • fgene-12-634553.pdf
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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology
Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM
Publication Date: 2020-12-14

Variant appearance in text: rs4268748
PubMed Link: 33318654
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1461.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs4268748
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs4268748
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Transcriptomic Profiles of MV4-11 and Kasumi 1 Acute Myeloid Leukemia Cell Lines Modulated by Epigenetic Modifiers Trichostatin A and 5-Azacytidine.

International Journal Of Hematology-Oncology And Stem Cell Research
Asmaa, Mat Jusoh Siti MJS; Al-Jamal, Hamid Ali HA; Hussein, Abdul Rahim AR; Yahaya, Badrul Hisham BH; Hassan, Roslin R; Hussain, Faezahtul Arbaeyah FA; Shamsuddin, Shaharum S; Johan, Muhammad Farid MF
Publication Date: 2020-01-01

Variant appearance in text: rs4268748
PubMed Link: 32337016
Variant Present in the following documents:
  • Main text
  • IJHOSCR-14-72.pdf
View BVdb publication page



Functional annotation of melanoma risk loci identifies novel susceptibility genes.

Carcinogenesis
Fang, Shenying S; Lu, Jiachun J; Zhou, Xinke X; Wang, Yuling Y; Ross, Merrick I MI; Gershenwald, Jeffrey E JE; Cormier, Janice N JN; Wargo, Jennifer J; Sui, Dawen D; Amos, Christopher I CI; Lee, Jeffrey E JE
Publication Date: 2020-06-17

Variant appearance in text: rs4268748
PubMed Link: 31630191
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 12 genetic loci associated with human healthspan.

Communications Biology
Zenin, Aleksandr A; Tsepilov, Yakov Y; Sharapov, Sodbo S; Getmantsev, Evgeny E; Menshikov, L I LI; Fedichev, Peter O PO; Aulchenko, Yurii Y
Publication Date: 2019

Variant appearance in text: rs4268748
PubMed Link: 30729179
Variant Present in the following documents:
  • Main text
  • 42003_2019_Article_290.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: rs4268748
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.

Nature Communications
Ioannidis, Nilah M NM; Wang, Wei W; Furlotte, Nicholas A NA; Hinds, David A DA; , ; Bustamante, Carlos D CD; Jorgenson, Eric E; Asgari, Maryam M MM; Whittemore, Alice S AS
Publication Date: 2018-10-15

Variant appearance in text: rs4268748
PubMed Link: 30323283
Variant Present in the following documents:
  • Main text
  • 41467_2018_6149_MOESM1_ESM.pdf
  • 41467_2018_Article_6149.pdf
View BVdb publication page



Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.

The Journal Of Investigative Dermatology
Sordillo, Joanne E JE; Kraft, Peter P; Wu, Ann Chen AC; Asgari, Maryam M MM
Publication Date: 2018-07

Variant appearance in text: rs4268748
PubMed Link: 29452120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

Peerj
Rawofi, Lida L; Edwards, Melissa M; Krithika, S S; Le, Phuong P; Cha, David D; Yang, Zhaohui Z; Ma, Yanyun Y; Wang, Jiucun J; Su, Bing B; Jin, Li L; Norton, Heather L HL; Parra, Esteban J EJ
Publication Date: 2017

Variant appearance in text: rs4268748
PubMed Link: 29109912
Variant Present in the following documents:
  • Main text
  • peerj-05-3951.pdf
View BVdb publication page



Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

The Journal Of Investigative Dermatology
Wang, Wei W; Jorgenson, Eric E; Whittemore, Alice S AS; Asgari, Maryam M MM
Publication Date: 2018-03

Variant appearance in text: rs4268748
PubMed Link: 29054604
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.

Plos One
Hulur, Imge I; Skol, Andrew D AD; Gamazon, Eric R ER; Cox, Nancy J NJ; Onel, Kenan K
Publication Date: 2017

Variant appearance in text: rs4268748
PubMed Link: 28973033
Variant Present in the following documents:
  • Main text
  • pone.0185730.pdf
View BVdb publication page



A GWAS of Cutaneous Squamous Cell Carcinoma-Letter.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Whittemore, Alice S AS; Wang, Wei W; Jorgenson, Eric E; Asgari, Maryam M MM
Publication Date: 2016-11

Variant appearance in text: rs4268748
PubMed Link: 27803070
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
Asgari, Maryam M MM; Wang, Wei W; Ioannidis, Nilah M NM; Itnyre, Jacqueline J; Hoffmann, Thomas T; Jorgenson, Eric E; Whittemore, Alice S AS
Publication Date: 2016-05

Variant appearance in text: rs4268748
PubMed Link: 26829030
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

Human Genetics
Liu, Fan F; Visser, Mijke M; Duffy, David L DL; Hysi, Pirro G PG; Jacobs, Leonie C LC; Lao, Oscar O; Zhong, Kaiyin K; Walsh, Susan S; Chaitanya, Lakshmi L; Wollstein, Andreas A; Zhu, Gu G; Montgomery, Grant W GW; Henders, Anjali K AK; Mangino, Massimo M; Glass, Daniel D; Bataille, Veronique V; Sturm, Richard A RA; Rivadeneira, Fernando F; Hofman, Albert A; van IJcken, Wilfred F J WF; Uitterlinden, André G AG; Palstra, Robert-Jan T S RJ; Spector, Timothy D TD; Martin, Nicholas G NG; Nijsten, Tamar E C TE; Kayser, Manfred M
Publication Date: 2015-08

Variant appearance in text: rs4268748
PubMed Link: 25963972
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1559.pdf
View BVdb publication page