HCN1 c.1783+602T>C

Variant ID: 5-45266589-A-G

NM_021072.3(HCN1):c.1783+602T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.

American Journal Of Human Genetics
Ghoussaini, Maya M; French, Juliet D JD; Michailidou, Kyriaki K; Nord, Silje S; Beesley, Jonathan J; Canisus, Sander S; Hillman, Kristine M KM; Kaufmann, Susanne S; Sivakumaran, Haran H; Moradi Marjaneh, Mahdi M; Lee, Jason S JS; Dennis, Joe J; Bolla, Manjeet K MK; Wang, Qin Q; Dicks, Ed E; Milne, Roger L RL; Hopper, John L JL; Southey, Melissa C MC; Schmidt, Marjanka K MK; Broeks, Annegien A; Muir, Kenneth K; Lophatananon, Artitaya A; Fasching, Peter A PA; Beckmann, Matthias W MW; Fletcher, Olivia O; Johnson, Nichola N; Sawyer, Elinor J EJ; Tomlinson, Ian I; Burwinkel, Barbara B; Marme, Frederik F; Guénel, Pascal P; Truong, Thérèse T; Bojesen, Stig E SE; Flyger, Henrik H; Benitez, Javier J; González-Neira, Anna A; Alonso, M Rosario MR; Pita, Guillermo G; Neuhausen, Susan L SL; Anton-Culver, Hoda H; Brenner, Hermann H; Arndt, Volker V; Meindl, Alfons A; Schmutzler, Rita K RK; Brauch, Hiltrud H; Hamann, Ute U; Tessier, Daniel C DC; Vincent, Daniel D; Nevanlinna, Heli H; Khan, Sofia S; Matsuo, Keitaro K; Ito, Hidemi H; Dörk, Thilo T; Bogdanova, Natalia V NV; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kosma, Veli-Matti VM; , ; Wu, Anna H AH; Van Den Berg, David D; Lambrechts, Diether D; Floris, Giuseppe G; Chang-Claude, Jenny J; Rudolph, Anja A; Radice, Paolo P; Barile, Monica M; Couch, Fergus J FJ; Hallberg, Emily E; Giles, Graham G GG; Haiman, Christopher A CA; Le Marchand, Loic L; Goldberg, Mark S MS; Teo, Soo H SH; Yip, Cheng Har CH; Borresen-Dale, Anne-Lise AL; , ; Zheng, Wei W; Cai, Qiuyin Q; Winqvist, Robert R; Pylkäs, Katri K; Andrulis, Irene L IL; Devilee, Peter P; Tollenaar, Rob A E M RA; García-Closas, Montserrat M; Figueroa, Jonine J; Hall, Per P; Czene, Kamila K; Brand, Judith S JS; Darabi, Hatef H; Eriksson, Mikael M; Hooning, Maartje J MJ; Koppert, Linetta B LB; Li, Jingmei J; Shu, Xiao-Ou XO; Zheng, Ying Y; Cox, Angela A; Cross, Simon S SS; Shah, Mitul M; Rhenius, Valerie V; Choi, Ji-Yeob JY; Kang, Daehee D; Hartman, Mikael M; Chia, Kee Seng KS; Kabisch, Maria M; Torres, Diana D; Luccarini, Craig C; Conroy, Don M DM; Jakubowska, Anna A; Lubinski, Jan J; Sangrajrang, Suleeporn S; Brennan, Paul P; Olswold, Curtis C; Slager, Susan S; Shen, Chen-Yang CY; Hou, Ming-Feng MF; Swerdlow, Anthony A; Schoemaker, Minouk J MJ; Simard, Jacques J; Pharoah, Paul D P PD; Kristensen, Vessela V; Chenevix-Trench, Georgia G; Easton, Douglas F DF; Dunning, Alison M AM; Edwards, Stacey L SL
Publication Date: 2016-10-06

Variant appearance in text: rs4866929
PubMed Link: 27640304
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Graphical-model Based Multiple Testing under Dependence, with Applications to Genome-wide Association Studies.

Uncertainty In Artificial Intelligence : Proceedings Of The ... Conference. Conference On Uncertainty In Artificial Intelligence
Liu, Jie J; Peissig, Peggy P; Zhang, Chunming C; Burnside, Elizabeth E; McCarty, Catherine C; Page, David D
Publication Date: 2012

Variant appearance in text: rs4866929
PubMed Link: 25285046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary breast cancer: ever more pieces to the polygenic puzzle.

Hereditary Cancer In Clinical Practice
Bogdanova, Natalia N; Helbig, Sonja S; Dörk, Thilo T
Publication Date: 2013-09-11

Variant appearance in text: rs4866929
PubMed Link: 24025454
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-12.pdf
View BVdb publication page



Genetic variation in Hyperpolarization-activated cyclic nucleotide-gated channels and its relationship with neuroticism, cognition and risk of depression.

Frontiers In Genetics
McIntosh, Andrew M AM; Simen, Arthur A AA; Evans, Kathryn L KL; Hall, Jeremy J; Macintyre, Donald J DJ; Blackwood, Douglas D; Morris, Andrew D AD; Smith, Blair H BH; Dominiczak, Anna A; Porteous, David D; Deary, Hb Ian J HI; Thomson, Pippa A PA
Publication Date: 2012

Variant appearance in text: rs4866929
PubMed Link: 22783272
Variant Present in the following documents:
  • Main text
  • fgene-03-00116.pdf
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Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Milne, Roger L RL; Goode, Ellen L EL; García-Closas, Montserrat M; Couch, Fergus J FJ; Severi, Gianluca G; Hein, Rebecca R; Fredericksen, Zachary Z; Malats, Núria N; Zamora, M Pilar MP; Arias Pérez, Jose Ignacio JI; Benítez, Javier J; Dörk, Thilo T; Schürmann, Peter P; Karstens, Johann H JH; Hillemanns, Peter P; Cox, Angela A; Brock, Ian W IW; Elliot, Graeme G; Cross, Simon S SS; Seal, Sheila S; Turnbull, Clare C; Renwick, Anthony A; Rahman, Nazneen N; Shen, Chen-Yang CY; Yu, Jyh-Cherng JC; Huang, Chiun-Sheng CS; Hou, Ming-Feng MF; Nordestgaard, Børge G BG; Bojesen, Stig E SE; Lanng, Charlotte C; Grenaker Alnæs, Grethe G; Kristensen, Vessela V; Børrensen-Dale, Anne-Lise AL; Hopper, John L JL; Dite, Gillian S GS; Apicella, Carmel C; Southey, Melissa C MC; Lambrechts, Diether D; Yesilyurt, Betül T BT; Floris, Giuseppe G; Leunen, Karin K; Sangrajrang, Suleeporn S; Gaborieau, Valerie V; Brennan, Paul P; McKay, James J; Chang-Claude, Jenny J; Wang-Gohrke, Shan S; Radice, Paolo P; Peterlongo, Paolo P; Manoukian, Siranoush S; Barile, Monica M; Giles, Graham G GG; Baglietto, Laura L; John, Esther M EM; Miron, Alexander A; Chanock, Stephen J SJ; Lissowska, Jolanta J; Sherman, Mark E ME; Figueroa, Jonine D JD; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Zalutsky, Iosif V IV; Rogov, Yuri I YI; Fasching, Peter A PA; Bayer, Christian M CM; Ekici, Arif B AB; Beckmann, Matthias W MW; Brenner, Hermann H; Müller, Heiko H; Arndt, Volker V; Stegmaier, Christa C; Andrulis, Irene L IL; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Meindl, Alfons A; Heil, Joerg J; Bartram, Claus R CR; Schmutzler, Rita K RK; Thomas, Gilles D GD; Hoover, Robert N RN; Fletcher, Olivia O; Gibson, Lorna J LJ; dos Santos Silva, Isabel I; Peto, Julian J; Nickels, Stefan S; Flesch-Janys, Dieter D; Anton-Culver, Hoda H; Ziogas, Argyrios A; Sawyer, Elinor E; Tomlinson, Ian I; Kerin, Michael M; Miller, Nicola N; Schmidt, Marjanka K MK; Broeks, Annegien A; Van 't Veer, Laura J LJ; Tollenaar, Rob A E M RA; Pharoah, Paul D P PD; Dunning, Alison M AM; Pooley, Karen A KA; Marme, Frederik F; Schneeweiss, Andreas A; Sohn, Christof C; Burwinkel, Barbara B; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Kang, Daehee D; Yoo, Keun-Young KY; Noh, Dong-Young DY; Ahn, Sei-Hyun SH; Hunter, David J DJ; Hankinson, Susan E SE; Kraft, Peter P; Lindstrom, Sara S; Chen, Xiaoqing X; Beesley, Jonathan J; Hamann, Ute U; Harth, Volker V; Justenhoven, Christina C; , ; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Hooning, Maartje M; Hollestelle, Antoinette A; Oldenburg, Rogier A RA; Tilanus-Linthorst, Madeleine M; Khusnutdinova, Elza E; Bermisheva, Marina M; Prokofieva, Darya D; Farahtdinova, Albina A; Olson, Janet E JE; Wang, Xianshu X; Humphreys, Manjeet K MK; Wang, Qin Q; Chenevix-Trench, Georgia G; , ; , ; Easton, Douglas F DF
Publication Date: 2011-10

Variant appearance in text: rs4866929
PubMed Link: 21795498
Variant Present in the following documents:
  • Main text
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Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gold, Bert B; Kirchhoff, Tomas T; Stefanov, Stefan S; Lautenberger, James J; Viale, Agnes A; Garber, Judy J; Friedman, Eitan E; Narod, Steven S; Olshen, Adam B AB; Gregersen, Peter P; Kosarin, Kristi K; Olsh, Adam A; Bergeron, Julie J; Ellis, Nathan A NA; Klein, Robert J RJ; Clark, Andrew G AG; Norton, Larry L; Dean, Michael M; Boyd, Jeff J; Offit, Kenneth K
Publication Date: 2008-03-18

Variant appearance in text: rs4866929
PubMed Link: 18326623
Variant Present in the following documents:
  • Main text
View BVdb publication page