HPGDS c.337-1417A>C

Variant ID: 4-95224812-T-G

NM_014485.2(HPGDS):c.337-1417A>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Nature Genetics
Wang, Zhaoming Z; McGlynn, Katherine A KA; Rajpert-De Meyts, Ewa E; Bishop, D Timothy DT; Chung, Charles C CC; Dalgaard, Marlene D MD; Greene, Mark H MH; Gupta, Ramneek R; Grotmol, Tom T; Haugen, Trine B TB; Karlsson, Robert R; Litchfield, Kevin K; Mitra, Nandita N; Nielsen, Kasper K; Pyle, Louise C LC; Schwartz, Stephen M SM; Thorsson, Vésteinn V; Vardhanabhuti, Saran S; Wiklund, Fredrik F; Turnbull, Clare C; Chanock, Stephen J SJ; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2017-07

Variant appearance in text: rs17021463
PubMed Link: 28604732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

Nature Genetics
Litchfield, Kevin K; Levy, Max M; Orlando, Giulia G; Loveday, Chey C; Law, Philip J PJ; Migliorini, Gabriele G; Holroyd, Amy A; Broderick, Peter P; Karlsson, Robert R; Haugen, Trine B TB; Kristiansen, Wenche W; Nsengimana, Jérémie J; Fenwick, Kerry K; Assiotis, Ioannis I; Kote-Jarai, ZSofia Z; Dunning, Alison M AM; Muir, Kenneth K; Peto, Julian J; Eeles, Rosalind R; Easton, Douglas F DF; Dudakia, Darshna D; Orr, Nick N; Pashayan, Nora N; , ; , ; Bishop, D Timothy DT; Reid, Alison A; Huddart, Robert A RA; Shipley, Janet J; Grotmol, Tom T; Wiklund, Fredrik F; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2017-07

Variant appearance in text: rs17021463
PubMed Link: 28604728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes, Chromosomes & Cancer
Marcotte, Erin L EL; Pankratz, Nathan N; Amatruda, James F JF; Frazier, A Lindsay AL; Krailo, Mark M; Davies, Stella S; Starr, Jacqueline R JR; Lau, Ching C CC; Roesler, Michelle M; Langer, Erica E; Hallstrom, Caroline C; Hooten, Anthony J AJ; Poynter, Jenny N JN
Publication Date: 2017-07

Variant appearance in text: rs17021463
PubMed Link: 28295819
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders.

Cell Reports
Wang, Xuting X; Campbell, Michelle R MR; Lacher, Sarah E SE; Cho, Hye-Youn HY; Wan, Ma M; Crowl, Christopher L CL; Chorley, Brian N BN; Bond, Gareth L GL; Kleeberger, Steven R SR; Slattery, Matthew M; Bell, Douglas A DA
Publication Date: 2016-04-26

Variant appearance in text: rs17021463
PubMed Link: 27149848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.

Scientific Reports
Litchfield, Kevin K; Thomsen, Hauke H; Mitchell, Jonathan S JS; Sundquist, Jan J; Houlston, Richard S RS; Hemminki, Kari K; Turnbull, Clare C
Publication Date: 2015-09-09

Variant appearance in text: rs17021463
PubMed Link: 26349679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Etiology and early pathogenesis of malignant testicular germ cell tumors: towards possibilities for preinvasive diagnosis.

Asian Journal Of Andrology
Elzinga-Tinke, Jenny E JE; Dohle, Gert R GR; Looijenga, Leendert Hj LH
Publication Date: 2015

Variant appearance in text: rs17021463
PubMed Link: 25791729
Variant Present in the following documents:
  • AJA-17-381.pdf
View BVdb publication page



A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.

Arthritis Research & Therapy
López-Isac, Elena E; Bossini-Castillo, Lara L; Simeon, Carmen P CP; Egurbide, María Victoria MV; Alegre-Sancho, Juan José JJ; Callejas, Jose Luis JL; Roman-Ivorra, José Andrés JA; Freire, Mayka M; Beretta, Lorenzo L; Santaniello, Alessandro A; Airó, Paolo P; Lunardi, Claudio C; Hunzelmann, Nicolas N; Riemekasten, Gabriela G; Witte, Torsten T; Kreuter, Alexander A; Distler, Jörg H W JH; Schuerwegh, Annemie J AJ; Vonk, Madelon C MC; Voskuyl, Alexandre E AE; Shiels, Paul G PG; van Laar, Jacob M JM; Fonseca, Carmen C; Denton, Christopher C; Herrick, Ariane A; Worthington, Jane J; Assassi, Shervin S; Koeleman, Bobby P BP; Mayes, Maureen D MD; Radstake, Timothy R D J TR; Martin, Javier J; ,
Publication Date: 2014-01-09

Variant appearance in text: rs17021463
PubMed Link: 24401602
Variant Present in the following documents:
  • Main text
  • ar4432.pdf
View BVdb publication page



Meta-analysis identifies four new loci associated with testicular germ cell tumor.

Nature Genetics
Chung, Charles C CC; Kanetsky, Peter A PA; Wang, Zhaoming Z; Hildebrandt, Michelle A T MA; Koster, Roelof R; Skotheim, Rolf I RI; Kratz, Christian P CP; Turnbull, Clare C; Cortessis, Victoria K VK; Bakken, Anne C AC; Bishop, D Timothy DT; Cook, Michael B MB; Erickson, R Loren RL; Fosså, Sophie D SD; Jacobs, Kevin B KB; Korde, Larissa A LA; Kraggerud, Sigrid M SM; Lothe, Ragnhild A RA; Loud, Jennifer T JT; Rahman, Nazneen N; Skinner, Eila C EC; Thomas, Duncan C DC; Wu, Xifeng X; Yeager, Meredith M; Schumacher, Fredrick R FR; Greene, Mark H MH; Schwartz, Stephen M SM; McGlynn, Katherine A KA; Chanock, Stephen J SJ; Nathanson, Katherine L KL
Publication Date: 2013-06

Variant appearance in text: rs17021463
PubMed Link: 23666239
Variant Present in the following documents:
  • Main text
  • nihms474977.pdf
View BVdb publication page