RERE c.1204-18919T>A

Variant ID: 1-8501786-A-T

NM_001042681.1(RERE):c.1204-18919T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs301819
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs301819
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

Respiratory Research
Zhu, Zhaozhong Z; Wang, Xiaofang X; Li, Xihao X; Lin, Yifei Y; Shen, Sipeng S; Liu, Cong-Lin CL; Hobbs, Brain D BD; Hasegawa, Kohei K; Liang, Liming L; , ; Boezen, H Marike HM; Camargo, Carlos A CA; Cho, Michael H MH; Christiani, David C DC
Publication Date: 2019-04-02

Variant appearance in text: rs301819
PubMed Link: 30940143
Variant Present in the following documents:
  • Main text
  • 12931_2019_Article_1036.pdf
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X
Publication Date: 2016

Variant appearance in text: rs301819
PubMed Link: 26870082
Variant Present in the following documents:
  • Main text
  • fgene-07-00003.pdf
View BVdb publication page



Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

The New England Journal Of Medicine
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Gowan, Katherine K; Riccardi, Sheri L SL; Holland, Paulene J PJ; Mailloux, Christina M CM; Sufit, Alexandra J D AJ; Hutton, Saunie M SM; Amadi-Myers, Anita A; Bennett, Dorothy C DC; Wallace, Margaret R MR; McCormack, Wayne T WT; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Picardo, Mauro M; Leone, Giovanni G; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; van Geel, Nanny N; Lambert, Jo J; Overbeck, Andreas A; Spritz, Richard A RA
Publication Date: 2010-05-06

Variant appearance in text: rs301819
PubMed Link: 20410501
Variant Present in the following documents:
  • Main text
View BVdb publication page