HMCN1 c.14266+17G>C

Variant ID: 1-186113852-G-C

NM_031935.2(HMCN1):c.14266+17G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Nature Genetics
Shrine, Nick N; Izquierdo, Abril G AG; Chen, Jing J; Packer, Richard R; Hall, Robert J RJ; Guyatt, Anna L AL; Batini, Chiara C; Thompson, Rebecca J RJ; Pavuluri, Chandan C; Malik, Vidhi V; Hobbs, Brian D BD; Moll, Matthew M; Kim, Wonji W; Tal-Singer, Ruth R; Bakke, Per P; Fawcett, Katherine A KA; John, Catherine C; Coley, Kayesha K; Piga, Noemi Nicole NN; Pozarickij, Alfred A; Lin, Kuang K; Millwood, Iona Y IY; Chen, Zhengming Z; Li, Liming L; , ; Wijnant, Sara R A SRA; Lahousse, Lies L; Brusselle, Guy G; Uitterlinden, Andre G AG; Manichaikul, Ani A; Oelsner, Elizabeth C EC; Rich, Stephen S SS; Barr, R Graham RG; Kerr, Shona M SM; Vitart, Veronique V; Brown, Michael R MR; Wielscher, Matthias M; Imboden, Medea M; Jeong, Ayoung A; Bartz, Traci M TM; Gharib, Sina A SA; Flexeder, Claudia C; Karrasch, Stefan S; Gieger, Christian C; Peters, Annette A; Stubbe, Beate B; Hu, Xiaowei X; Ortega, Victor E VE; Meyers, Deborah A DA; Bleecker, Eugene R ER; Gabriel, Stacey B SB; Gupta, Namrata N; Smith, Albert Vernon AV; Luan, Jian'an J; Zhao, Jing-Hua JH; Hansen, Ailin F AF; Langhammer, Arnulf A; Willer, Cristen C; Bhatta, Laxmi L; Porteous, David D; Smith, Blair H BH; Campbell, Archie A; Sofer, Tamar T; Lee, Jiwon J; Daviglus, Martha L ML; Yu, Bing B; Lim, Elise E; Xu, Hanfei H; O'Connor, George T GT; Thareja, Gaurav G; Albagha, Omar M E OME; , ; Suhre, Karsten K; Granell, Raquel R; Faquih, Tariq O TO; Hiemstra, Pieter S PS; Slats, Annelies M AM; Mullin, Benjamin H BH; Hui, Jennie J; James, Alan A; Beilby, John J; Patasova, Karina K; Hysi, Pirro P; Koskela, Jukka T JT; Wyss, Annah B AB; Jin, Jianping J; Sikdar, Sinjini S; Lee, Mikyeong M; May-Wilson, Sebastian S; Pirastu, Nicola N; Kentistou, Katherine A KA; Joshi, Peter K PK; Timmers, Paul R H J PRHJ; Williams, Alexander T AT; Free, Robert C RC; Wang, Xueyang X; Morrison, John L JL; Gilliland, Frank D FD; Chen, Zhanghua Z; Wang, Carol A CA; Foong, Rachel E RE; Harris, Sarah E SE; Taylor, Adele A; Redmond, Paul P; Cook, James P JP; Mahajan, Anubha A; Lind, Lars L; Palviainen, Teemu T; Lehtimäki, Terho T; Raitakari, Olli T OT; Kaprio, Jaakko J; Rantanen, Taina T; Pietiläinen, Kirsi H KH; Cox, Simon R SR; Pennell, Craig E CE; Hall, Graham L GL; Gauderman, W James WJ; Brightling, Chris C; Wilson, James F JF; Vasankari, Tuula T; Laitinen, Tarja T; Salomaa, Veikko V; Mook-Kanamori, Dennis O DO; Timpson, Nicholas J NJ; Zeggini, Eleftheria E; Dupuis, Josée J; Hayward, Caroline C; Brumpton, Ben B; Langenberg, Claudia C; Weiss, Stefan S; Homuth, Georg G; Schmidt, Carsten Oliver CO; Probst-Hensch, Nicole N; Jarvelin, Marjo-Riitta MR; Morrison, Alanna C AC; Polasek, Ozren O; Rudan, Igor I; Lee, Joo-Hyeon JH; Sayers, Ian I; Rawlins, Emma L EL; Dudbridge, Frank F; Silverman, Edwin K EK; Strachan, David P DP; Walters, Robin G RG; Morris, Andrew P AP; London, Stephanie J SJ; Cho, Michael H MH; Wain, Louise V LV; Hall, Ian P IP; Tobin, Martin D MD
Publication Date: 2023-03

Variant appearance in text: rs17531405
PubMed Link: 36914875
Variant Present in the following documents:
  • 41588_2023_1314_MOESM1_ESM.pdf
View BVdb publication page



Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Allen, Richard J RJ; Guillen-Guio, Beatriz B; Oldham, Justin M JM; Ma, Shwu-Fan SF; Dressen, Amy A; Paynton, Megan L ML; Kraven, Luke M LM; Obeidat, Ma'en M; Li, Xuan X; Ng, Michael M; Braybrooke, Rebecca R; Molina-Molina, Maria M; Hobbs, Brian D BD; Putman, Rachel K RK; Sakornsakolpat, Phuwanat P; Booth, Helen L HL; Fahy, William A WA; Hart, Simon P SP; Hill, Mike R MR; Hirani, Nik N; Hubbard, Richard B RB; McAnulty, Robin J RJ; Millar, Ann B AB; Navaratnam, Vidyia V; Oballa, Eunice E; Parfrey, Helen H; Saini, Gauri G; Whyte, Moira K B MKB; Zhang, Yingze Y; Kaminski, Naftali N; Adegunsoye, Ayodeji A; Strek, Mary E ME; Neighbors, Margaret M; Sheng, Xuting R XR; Gudmundsson, Gunnar G; Gudnason, Vilmundur V; Hatabu, Hiroto H; Lederer, David J DJ; Manichaikul, Ani A; Newell, John D JD; O'Connor, George T GT; Ortega, Victor E VE; Xu, Hanfei H; Fingerlin, Tasha E TE; Bossé, Yohan Y; Hao, Ke K; Joubert, Philippe P; Nickle, David C DC; Sin, Don D DD; Timens, Wim W; Furniss, Dominic D; Morris, Andrew P AP; Zondervan, Krina T KT; Hall, Ian P IP; Sayers, Ian I; Tobin, Martin D MD; Maher, Toby M TM; Cho, Michael H MH; Hunninghake, Gary M GM; Schwartz, David A DA; Yaspan, Brian L BL; Molyneaux, Philip L PL; Flores, Carlos C; Noth, Imre I; Jenkins, R Gisli RG; Wain, Louise V LV
Publication Date: 2020-03-01

Variant appearance in text: rs17531405
PubMed Link: 31710517
Variant Present in the following documents:
  • rccm.201905-1017OC_allen_data_supplement.pdf
View BVdb publication page



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: rs17531405
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: HMCN1: 14266+17G>C; rs17531405
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page