HFE c.616+353G>T

Variant ID: 6-26092170-G-T

NM_000410.3(HFE):c.616+353G>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs2032451
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs2032451
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Bmc Genomics
Hodonsky, Chani J CJ; Baldassari, Antoine R AR; Bien, Stephanie A SA; Raffield, Laura M LM; Highland, Heather M HM; Sitlani, Colleen M CM; Wojcik, Genevieve L GL; Tao, Ran R; Graff, Marielisa M; Tang, Weihong W; Thyagarajan, Bharat B; Buyske, Steve S; Fornage, Myriam M; Hindorff, Lucia A LA; Li, Yun Y; Lin, Danyu D; Reiner, Alex P AP; North, Kari E KE; Loos, Ruth J F RJF; Kooperberg, Charles C; Avery, Christy L CL
Publication Date: 2020-03-14

Variant appearance in text: rs2032451
PubMed Link: 32171239
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_6626.pdf
View BVdb publication page



Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Plos Genetics
Hodonsky, Chani J CJ; Jain, Deepti D; Schick, Ursula M UM; Morrison, Jean V JV; Brown, Lisa L; McHugh, Caitlin P CP; Schurmann, Claudia C; Chen, Diane D DD; Liu, Yong Mei YM; Auer, Paul L PL; Laurie, Cecilia A CA; Taylor, Kent D KD; Browning, Brian L BL; Li, Yun Y; Papanicolaou, George G; Rotter, Jerome I JI; Kurita, Ryo R; Nakamura, Yukio Y; Browning, Sharon R SR; Loos, Ruth J F RJF; North, Kari E KE; Laurie, Cathy C CC; Thornton, Timothy A TA; Pankratz, Nathan N; Bauer, Daniel E DE; Sofer, Tamar T; Reiner, Alex P AP
Publication Date: 2017-04

Variant appearance in text: rs2032451
PubMed Link: 28453575
Variant Present in the following documents:
  • Main text
  • pgen.1006760.pdf
View BVdb publication page



Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

Bmc Genetics
Mikhailova, S V SV; Babenko, V N VN; Ivanoshchuk, D E DE; Gubina, M A MA; Maksimov, V N VN; Solovjova, I G IG; Voevoda, M I MI
Publication Date: 2016-06-17

Variant appearance in text: rs2032451
PubMed Link: 27317329
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_396.pdf
View BVdb publication page