MX2 c.-71-5436G>T

Variant ID: 21-42743327-G-T

NM_002463.1(MX2):c.-71-5436G>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Publication Date: 2020-05

Variant appearance in text: rs443099
PubMed Link: 32341527
Variant Present in the following documents:
  • NIHMS1574209-supplement-2.xlsx, sheet 9
View BVdb publication page



Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Genome Research
Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Shi, Jianxin J; Xu, Mai M; , ; , ; Goldstein, Alisa M AM; Trower, Adam J AJ; Bishop, D Timothy DT; Iles, Mark M MM; Duffy, David L DL; MacGregor, Stuart S; Amundadottir, Laufey T LT; Law, Matthew H MH; Loftus, Stacie K SK; Pavan, William J WJ; Brown, Kevin M KM
Publication Date: 2018-11

Variant appearance in text: rs443099
PubMed Link: 30333196
Variant Present in the following documents:
  • 1621.pdf
View BVdb publication page



Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer
Barrett, Jennifer H JH; Taylor, John C JC; Bright, Chloe C; Harland, Mark M; Dunning, Alison M AM; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Bianchi Scarrà, Giovanna G; Brossard, Myriam M; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Molven, Anders A; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; van der Stoep, Nienke N; van Doorn, Remco R; van Workum, Wilbert W; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Pharoah, Paul D P PD; Demenais, Florence F; Hayward, Nicholas K NK; Newton Bishop, Julia A JA; Bishop, D Timothy DT; Iles, Mark M MM; ,
Publication Date: 2015-03-15

Variant appearance in text: rs443099
PubMed Link: 25077817
Variant Present in the following documents:
  • Main text
  • ijc0136-1351.pdf
View BVdb publication page