HFE c.*2294G>C

Variant ID: 6-26096748-G-C

NM_000410.3(HFE):c.*2294G>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs1045537
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants.

Scientific Reports
Salih, Ahmed A; Boscolo Galazzo, Ilaria I; Raisi-Estabragh, Zahra Z; Rauseo, Elisa E; Gkontra, Polyxeni P; Petersen, Steffen E SE; Lekadir, Karim K; Altmann, André A; Radeva, Petia P; Menegaz, Gloria G
Publication Date: 2021-10-18

Variant appearance in text: rs1045537
PubMed Link: 34663856
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_99153.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs1045537
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.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: rs1045537
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Dietary iron, iron homeostatic gene polymorphisms and the risk of advanced colorectal adenoma and cancer.

Carcinogenesis
Ruder, Elizabeth H EH; Berndt, Sonja I SI; Gilsing, Anne M J AM; Graubard, Barry I BI; Burdett, Laurie L; Hayes, Richard B RB; Weissfeld, Joel L JL; Ferrucci, Leah M LM; Sinha, Rashmi R; Cross, Amanda J AJ
Publication Date: 2014-06

Variant appearance in text: rs1045537
PubMed Link: 24536049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Premenopausal plasma ferritin levels, HFE polymorphisms, and risk of breast cancer in the nurses' health study II.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Graff, Rebecca E RE; Cho, Eunyoung E; Lindström, Sara S; Kraft, Peter P; Willett, Walter C WC; Eliassen, A Heather AH
Publication Date: 2014-03

Variant appearance in text: rs1045537
PubMed Link: 24443403
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.

Carcinogenesis
Agudo, Antonio A; Bonet, Catalina C; Sala, Núria N; Muñoz, Xavier X; Aranda, Núria N; Fonseca-Nunes, Ana A; Clavel-Chapelon, Françoise F; Boutron-Ruault, Marie Christine MC; Vineis, Paolo P; Panico, Salvatore S; Palli, Domenico D; Tumino, Rosario R; Grioni, Sara S; Quirós, J Ramón JR; Molina, Esther E; Navarro, Carmen C; Barricarte, Aurelio A; Chamosa, Saioa S; Allen, Naomi E NE; Khaw, Kay-Tee KT; Bueno-de-Mesquita, H Bas HB; Siersema, Peter D PD; Numans, Mattijs E ME; Trichopoulou, Antonia A; Lagiou, Pagona P; Trichopoulos, Dimitrios D; Kaaks, Rudof R; Canzian, Federico F; Boeing, Heiner H; Meidtner, Karina K; Johansson, Mattias M; Sund, Malin M; Manjer, Jonas J; Overvad, Kim K; Tjonneland, Anne A; Lund, Eiliv E; Weiderpass, Elisabete E; Jenab, Mazda M; Fedirko, Veronika V; Offerhaus, G Johan A GJ; Riboli, Elio E; González, Carlos A CA; Jakszyn, Paula P
Publication Date: 2013-06

Variant appearance in text: rs1045537
PubMed Link: 23389292
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.

British Journal Of Haematology
Constantine, Clare C CC; Anderson, Greg J GJ; Vulpe, Chris D CD; McLaren, Christine E CE; Bahlo, Melanie M; Yeap, Heng Lin HL; Gertig, Dorota M DM; Osborne, Nicholas J NJ; Bertalli, Nadine A NA; Beckman, Kenneth B KB; Chen, Victoria V; Matak, Pavel P; McKie, Andrew T AT; Delatycki, Martin B MB; Olynyk, John K JK; English, Dallas R DR; Southey, Melissa C MC; Giles, Graham G GG; Hopper, John L JL; Allen, Katrina J KJ; Gurrin, Lyle C LC
Publication Date: 2009-10

Variant appearance in text: rs1045537
PubMed Link: 19673882
Variant Present in the following documents:
  • Main text
View BVdb publication page