FOXS1 c.-7G>A

Variant ID: 20-30433352-C-T

NM_004118.3(FOXS1):c.-7G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: FOXS1: -7G>A; rs6121246
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: FOXS1: -7G>A; rs6121246
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

American Journal Of Human Genetics
van Rooij, Frank J A FJA; Qayyum, Rehan R; Smith, Albert V AV; Zhou, Yi Y; Trompet, Stella S; Tanaka, Toshiko T; Keller, Margaux F MF; Chang, Li-Ching LC; Schmidt, Helena H; Yang, Min-Lee ML; Chen, Ming-Huei MH; Hayes, James J; Johnson, Andrew D AD; Yanek, Lisa R LR; Mueller, Christian C; Lange, Leslie L; Floyd, James S JS; Ghanbari, Mohsen M; Zonderman, Alan B AB; Jukema, J Wouter JW; Hofman, Albert A; van Duijn, Cornelia M CM; Desch, Karl C KC; Saba, Yasaman Y; Ozel, Ayse B AB; Snively, Beverly M BM; Wu, Jer-Yuarn JY; Schmidt, Reinhold R; Fornage, Myriam M; Klein, Robert J RJ; Fox, Caroline S CS; Matsuda, Koichi K; Kamatani, Naoyuki N; Wild, Philipp S PS; Stott, David J DJ; Ford, Ian I; Slagboom, P Eline PE; Yang, Jaden J; Chu, Audrey Y AY; Lambert, Amy J AJ; Uitterlinden, André G AG; Franco, Oscar H OH; Hofer, Edith E; Ginsburg, David D; Hu, Bella B; Keating, Brendan B; Schick, Ursula M UM; Brody, Jennifer A JA; Li, Jun Z JZ; Chen, Zhao Z; Zeller, Tanja T; Guralnik, Jack M JM; Chasman, Daniel I DI; Peters, Luanne L LL; Kubo, Michiaki M; Becker, Diane M DM; Li, Jin J; Eiriksdottir, Gudny G; Rotter, Jerome I JI; Levy, Daniel D; Grossmann, Vera V; Patel, Kushang V KV; Chen, Chien-Hsiun CH; , ; Ridker, Paul M PM; Tang, Hua H; Launer, Lenore J LJ; Rice, Kenneth M KM; Li-Gao, Ruifang R; Ferrucci, Luigi L; Evans, Michelle K MK; Choudhuri, Avik A; Trompouki, Eirini E; Abraham, Brian J BJ; Yang, Song S; Takahashi, Atsushi A; Kamatani, Yoichiro Y; Kooperberg, Charles C; Harris, Tamara B TB; Jee, Sun Ha SH; Coresh, Josef J; Tsai, Fuu-Jen FJ; Longo, Dan L DL; Chen, Yuan-Tsong YT; Felix, Janine F JF; Yang, Qiong Q; Psaty, Bruce M BM; Boerwinkle, Eric E; Becker, Lewis C LC; Mook-Kanamori, Dennis O DO; Wilson, James G JG; Gudnason, Vilmundur V; O'Donnell, Christopher J CJ; Dehghan, Abbas A; Cupples, L Adrienne LA; Nalls, Michael A MA; Morris, Andrew P AP; Okada, Yukinori Y; Reiner, Alexander P AP; Zon, Leonard I LI; Ganesh, Santhi K SK
Publication Date: 2017-01-05

Variant appearance in text: rs6121246
PubMed Link: 28017375
Variant Present in the following documents:
  • Main text
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: rs6121246
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page