ULK4 c.1624G>C ;(p.A542P)

Variant ID: 3-41925398-C-G

NM_017886.2(ULK4):c.1624G>C;(p.A542P)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs1052501
PubMed Link: 37067496
Variant Present in the following documents:
  • btad193_supplementary_data.pdf
View BVdb publication page



ULK4 in Neurodevelopmental and Neuropsychiatric Disorders.

Frontiers In Cell And Developmental Biology
Luo, Shilin S; Zheng, Nanxi N; Lang, Bing B
Publication Date: 2022

Variant appearance in text: ULK4: A542T; rs1052501
PubMed Link: 35493088
Variant Present in the following documents:
  • fcell-10-873706.pdf
View BVdb publication page



Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs1052501
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs1052501
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



A polygenic risk score for multiple myeloma risk prediction.

European Journal Of Human Genetics : Ejhg
Canzian, Federico F; Piredda, Chiara C; Macauda, Angelica A; Zawirska, Daria D; Andersen, Niels Frost NF; Nagler, Arnon A; Zaucha, Jan Maciej JM; Mazur, Grzegorz G; Dumontet, Charles C; Wątek, Marzena M; Jamroziak, Krzysztof K; Sainz, Juan J; Várkonyi, Judit J; Butrym, Aleksandra A; Beider, Katia K; Abildgaard, Niels N; Lesueur, Fabienne F; Dudziński, Marek M; Vangsted, Annette Juul AJ; Pelosini, Matteo M; Subocz, Edyta E; Petrini, Mario M; Buda, Gabriele G; Raźny, Małgorzata M; Gemignani, Federica F; Marques, Herlander H; Orciuolo, Enrico E; Kadar, Katalin K; Jurczyszyn, Artur A; Druzd-Sitek, Agnieszka A; Vogel, Ulla U; Andersen, Vibeke V; Reis, Rui Manuel RM; Suska, Anna A; Avet-Loiseau, Hervé H; Kruszewski, Marcin M; Tomczak, Waldemar W; Rymko, Marcin M; Minvielle, Stephane S; Campa, Daniele D
Publication Date: 2022-04

Variant appearance in text: rs1052501
PubMed Link: 34845334
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_986.pdf
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: rs1052501
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: rs1052501
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: ULK4: A542P; rs1052501
PubMed Link: 34373545
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95618.pdf
View BVdb publication page



Germline variants at SOHLH2 influence multiple myeloma risk.

Blood Cancer Journal
Duran-Lozano, Laura L; Thorleifsson, Gudmar G; Lopez de Lapuente Portilla, Aitzkoa A; Niroula, Abhishek A; Went, Molly M; Thodberg, Malte M; Pertesi, Maroulio M; Ajore, Ram R; Cafaro, Caterina C; Olason, Pall I PI; Stefansdottir, Lilja L; Bragi Walters, G G; Halldorsson, Gisli H GH; Turesson, Ingemar I; Kaiser, Martin F MF; Weinhold, Niels N; Abildgaard, Niels N; Andersen, Niels Frost NF; Mellqvist, Ulf-Henrik UH; Waage, Anders A; Juul-Vangsted, Annette A; Thorsteinsdottir, Unnur U; Hansson, Markus M; Houlston, Richard R; Rafnar, Thorunn T; Stefansson, Kari K; Nilsson, Björn B
Publication Date: 2021-04-19

Variant appearance in text: rs1052501
PubMed Link: 33875642
Variant Present in the following documents:
  • 41408_2021_468_MOESM2_ESM.pdf
View BVdb publication page



A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry.

Blood Advances
Du, Zhaohui Z; Weinhold, Niels N; Song, Gregory Chi GC; Rand, Kristin A KA; Van Den Berg, David J DJ; Hwang, Amie E AE; Sheng, Xin X; Hom, Victor V; Ailawadhi, Sikander S; Nooka, Ajay K AK; Singhal, Seema S; Pawlish, Karen K; Peters, Edward S ES; Bock, Cathryn C; Mohrbacher, Ann A; Stram, Alexander A; Berndt, Sonja I SI; Blot, William J WJ; Casey, Graham G; Stevens, Victoria L VL; Kittles, Rick R; Goodman, Phyllis J PJ; Diver, W Ryan WR; Hennis, Anselm A; Nemesure, Barbara B; Klein, Eric A EA; Rybicki, Benjamin A BA; Stanford, Janet L JL; Witte, John S JS; Signorello, Lisa L; John, Esther M EM; Bernstein, Leslie L; Stroup, Antoinette M AM; Stephens, Owen W OW; Zangari, Maurizio M; Van Rhee, Frits F; Olshan, Andrew A; Zheng, Wei W; Hu, Jennifer J JJ; Ziegler, Regina R; Nyante, Sarah J SJ; Ingles, Sue Ann SA; Press, Michael F MF; Carpten, John David JD; Chanock, Stephen J SJ; Mehta, Jayesh J; Colditz, Graham A GA; Wolf, Jeffrey J; Martin, Thomas G TG; Tomasson, Michael M; Fiala, Mark A MA; Terebelo, Howard H; Janakiraman, Nalini N; Kolonel, Laurence L; Anderson, Kenneth C KC; Le Marchand, Loic L; Auclair, Daniel D; Chiu, Brian C-H BC; Ziv, Elad E; Stram, Daniel D; Vij, Ravi R; Bernal-Mizrachi, Leon L; Morgan, Gareth J GJ; Zonder, Jeffrey A JA; Huff, Carol Ann CA; Lonial, Sagar S; Orlowski, Robert Z RZ; Conti, David V DV; Haiman, Christopher A CA; Cozen, Wendy W
Publication Date: 2020-01-14

Variant appearance in text: rs1052501
PubMed Link: 31935283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline Risk Contribution to Genomic Instability in Multiple Myeloma.

Frontiers In Genetics
Janz, Siegfried S; Zhan, Fenghuang F; Sun, Fumou F; Cheng, Yan Y; Pisano, Michael M; Yang, Ye Y; Goldschmidt, Hartmut H; Hari, Parameswaran P
Publication Date: 2019

Variant appearance in text: rs1052501
PubMed Link: 31139207
Variant Present in the following documents:
  • Main text
  • fgene-10-00424.pdf
View BVdb publication page



A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study.

Neuro-Oncology
Labreche, Karim K; Daniau, Mailys M; Sud, Amit A; Law, Philip J PJ; Royer-Perron, Louis L; Holroyd, Amy A; Broderick, Peter P; Went, Molly M; Benazra, Marion M; Ahle, Guido G; Soubeyran, Pierre P; Taillandier, Luc L; Chinot, Olivier L OL; Casasnovas, Olivier O; Bay, Jacques-Olivier JO; Jardin, Fabrice F; Oberic, Lucie L; Fabbro, Michel M; Damaj, Gandhi G; Brion, Annie A; Mokhtari, Karima K; Philippe, Cathy C; Sanson, Marc M; Houillier, Caroline C; Soussain, Carole C; Hoang-Xuan, Khê K; Houlston, Richard S RS; Alentorn, Agusti A; ,
Publication Date: 2019-08-05

Variant appearance in text: rs1052501
PubMed Link: 31102405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1052501
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
Publication Date: 2019-07

Variant appearance in text: rs1052501
PubMed Link: 30675012
Variant Present in the following documents:
  • 41375_2018_Article_309.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1052501
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Multiple roles of Ulk4 in neurogenesis and brain function.

Neurogenesis (Austin, Tex.)
Liu, Min M; Xu, Ping P; O'Brien, Timothy T; Shen, Sanbing S
Publication Date: 2017

Variant appearance in text: rs1052501
PubMed Link: 28596978
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCOA1 is a novel susceptibility gene for multiple myeloma in the Chinese population: A case-control study.

Plos One
Peng, Mengle M; Zhao, Guanfei G; Yang, Funing F; Cheng, Guixue G; Huang, Jing J; Qin, Xiaosong X; Liu, Yong Y; Wang, Qingtao Q; Li, Yongzhe Y; Qin, Dongchun D
Publication Date: 2017

Variant appearance in text: rs1052501
PubMed Link: 28264017
Variant Present in the following documents:
  • Main text
  • pone.0173298.pdf
View BVdb publication page



Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry.

Journal Of Hypertension
Nandakumar, Priyanka P; Lee, Dongwon D; Richard, Melissa A MA; Tekola-Ayele, Fasil F; Tayo, Bamidele O BO; Ware, Erin E; Sung, Yun J YJ; Salako, Babatunde B; Ogunniyi, Adesola A; Gu, C Charles CC; Grove, Megan L ML; Fornage, Myriam M; Kardia, Sharon S; Rotimi, Charles C; Cooper, Richard S RS; Morrison, Alanna C AC; Ehret, Georg G; Chakravarti, Aravinda A
Publication Date: 2017-07

Variant appearance in text: rs1052501
PubMed Link: 28234671
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel regional age-associated DNA methylation changes within human common disease-associated loci.

Genome Biology
Bell, Christopher G CG; Xia, Yudong Y; Yuan, Wei W; Gao, Fei F; Ward, Kirsten K; Roos, Leonie L; Mangino, Massimo M; Hysi, Pirro G PG; Bell, Jordana J; Wang, Jun J; Spector, Timothy D TD
Publication Date: 2016-09-23

Variant appearance in text: rs1052501
PubMed Link: 27663977
Variant Present in the following documents:
  • Main text
  • 13059_2016_Article_1051.pdf
View BVdb publication page



A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rand, Kristin A KA; Song, Chi C; Dean, Eric E; Serie, Daniel J DJ; Curtin, Karen K; Sheng, Xin X; Hu, Donglei D; Huff, Carol Ann CA; Bernal-Mizrachi, Leon L; Tomasson, Michael H MH; Ailawadhi, Sikander S; Singhal, Seema S; Pawlish, Karen K; Peters, Edward S ES; Bock, Cathryn H CH; Stram, Alex A; Van Den Berg, David J DJ; Edlund, Christopher K CK; Conti, David V DV; Zimmerman, Todd T; Hwang, Amie E AE; Huntsman, Scott S; Graff, John J; Nooka, Ajay A; Kong, Yinfei Y; Pregja, Silvana L SL; Berndt, Sonja I SI; Blot, William J WJ; Carpten, John J; Casey, Graham G; Chu, Lisa L; Diver, W Ryan WR; Stevens, Victoria L VL; Lieber, Michael R MR; Goodman, Phyllis J PJ; Hennis, Anselm J M AJ; Hsing, Ann W AW; Mehta, Jayesh J; Kittles, Rick A RA; Kolb, Suzanne S; Klein, Eric A EA; Leske, Cristina C; Murphy, Adam B AB; Nemesure, Barbara B; Neslund-Dudas, Christine C; Strom, Sara S SS; Vij, Ravi R; Rybicki, Benjamin A BA; Stanford, Janet L JL; Signorello, Lisa B LB; Witte, John S JS; Ambrosone, Christine B CB; Bhatti, Parveen P; John, Esther M EM; Bernstein, Leslie L; Zheng, Wei W; Olshan, Andrew F AF; Hu, Jennifer J JJ; Ziegler, Regina G RG; Nyante, Sarah J SJ; Bandera, Elisa V EV; Birmann, Brenda M BM; Ingles, Sue A SA; Press, Michael F MF; Atanackovic, Djordje D; Glenn, Martha J MJ; Cannon-Albright, Lisa A LA; Jones, Brandt B; Tricot, Guido G; Martin, Thomas G TG; Kumar, Shaji K SK; Wolf, Jeffrey L JL; Deming Halverson, Sandra L SL; Rothman, Nathaniel N; Brooks-Wilson, Angela R AR; Rajkumar, S Vincent SV; Kolonel, Laurence N LN; Chanock, Stephen J SJ; Slager, Susan L SL; Severson, Richard K RK; Janakiraman, Nalini N; Terebelo, Howard R HR; Brown, Elizabeth E EE; De Roos, Anneclaire J AJ; Mohrbacher, Ann F AF; Colditz, Graham A GA; Giles, Graham G GG; Spinelli, John J JJ; Chiu, Brian C BC; Munshi, Nikhil C NC; Anderson, Kenneth C KC; Levy, Joan J; Zonder, Jeffrey A JA; Orlowski, Robert Z RZ; Lonial, Sagar S; Camp, Nicola J NJ; Vachon, Celine M CM; Ziv, Elad E; Stram, Daniel O DO; Hazelett, Dennis J DJ; Haiman, Christopher A CA; Cozen, Wendy W
Publication Date: 2016-12

Variant appearance in text: rs1052501
PubMed Link: 27587788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
Publication Date: 2016-07-01

Variant appearance in text: rs1052501
PubMed Link: 27363682
Variant Present in the following documents:
  • ncomms12050-s1.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1052501
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma.

Scientific Reports
Mitchell, Jonathan S JS; Johnson, David C DC; Litchfield, Kevin K; Broderick, Peter P; Weinhold, Niels N; Davies, Faith E FE; Gregory, Walter A WA; Jackson, Graham H GH; Kaiser, Martin M; Morgan, Gareth J GJ; Houlston, Richard S RS
Publication Date: 2015-07-24

Variant appearance in text: rs1052501
PubMed Link: 26208354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Practical investigation of the performance of robust logistic regression to predict the genetic risk of hypertension.

Bmc Proceedings
Kesselmeier, Miriam M; Legrand, Carine C; Peil, Barbara B; Kabisch, Maria M; Fischer, Christine C; Hamann, Ute U; Lorenzo Bermejo, Justo J
Publication Date: 2014

Variant appearance in text: rs1052501
PubMed Link: 25519338
Variant Present in the following documents:
  • Main text
  • 1753-6561-8-S1-S65.pdf
View BVdb publication page



The 7p15.3 (rs4487645) association for multiple myeloma shows strong allele-specific regulation of the MYC-interacting gene CDCA7L in malignant plasma cells.

Haematologica
Weinhold, Niels N; Meissner, Tobias T; Johnson, David C DC; Seckinger, Anja A; Moreaux, Jérôme J; Försti, Asta A; Chen, Bowang B; Nickel, Jolanta J; Chubb, Daniel D; Rawstron, Andrew C AC; Doughty, Chi C; Dahir, Nasrin B NB; Begum, Dil B DB; Young, Kwee K; Walker, Brian A BA; Hoffmann, Per P; Nöthen, Marcus M MM; Davies, Faith E FE; Klein, Bernard B; Goldschmidt, Hartmut H; Morgan, Gareth J GJ; Houlston, Richard S RS; Hose, Dirk D; Hemminki, Kari K
Publication Date: 2015-03

Variant appearance in text: rs1052501
PubMed Link: 25480495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics
Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD
Publication Date: 2014-06-27

Variant appearance in text: rs1052501
PubMed Link: 24973796
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6258.pdf
View BVdb publication page



Linking the genetic architecture of cytosine modifications with human complex traits.

Human Molecular Genetics
Zhang, Xu X; Moen, Erika L EL; Liu, Cong C; Mu, Wenbo W; Gamazon, Eric R ER; Delaney, Shannon M SM; Wing, Claudia C; Godley, Lucy A LA; Dolan, M Eileen ME; Zhang, Wei W
Publication Date: 2014-11-15

Variant appearance in text: rs1052501
PubMed Link: 24943591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1052501
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Plos Genetics
Zhernakova, Daria V DV; de Klerk, Eleonora E; Westra, Harm-Jan HJ; Mastrokolias, Anastasios A; Amini, Shoaib S; Ariyurek, Yavuz Y; Jansen, Rick R; Penninx, Brenda W BW; Hottenga, Jouke J JJ; Willemsen, Gonneke G; de Geus, Eco J EJ; Boomsma, Dorret I DI; Veldink, Jan H JH; van den Berg, Leonard H LH; Wijmenga, Cisca C; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; 't Hoen, Peter A C PA; Franke, Lude L
Publication Date: 2013-06

Variant appearance in text: rs1052501
PubMed Link: 23818875
Variant Present in the following documents:
  • Main text
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The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

Nature Genetics
Weinhold, Niels N; Johnson, David C DC; Chubb, Daniel D; Chen, Bowang B; Försti, Asta A; Hosking, Fay J FJ; Broderick, Peter P; Ma, Yussanne P YP; Dobbins, Sara E SE; Hose, Dirk D; Walker, Brian A BA; Davies, Faith E FE; Kaiser, Martin F MF; Li, Ni L NL; Gregory, Walter A WA; Jackson, Graham H GH; Witzens-Harig, Mathias M; Neben, Kai K; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Ross, Fiona M FM; Jauch, Anna A; Goldschmidt, Hartmut H; Houlston, Richard S RS; Morgan, Gareth J GJ; Hemminki, Kari K
Publication Date: 2013-05

Variant appearance in text: rs1052501
PubMed Link: 23502783
Variant Present in the following documents:
  • NIHMS53125-supplement-1.pdf
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Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma.

Leukemia
Greenberg, A J AJ; Lee, A M AM; Serie, D J DJ; McDonnell, S K SK; Cerhan, J R JR; Liebow, M M; Larson, D R DR; Colby, C L CL; Norman, A D AD; Kyle, R A RA; Kumar, S S; Rajkumar, S V SV; Diasio, R B RB; Slager, S L SL; Vachon, C M CM
Publication Date: 2013-02

Variant appearance in text: rs1052501
PubMed Link: 22945773
Variant Present in the following documents:
  • Main text
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Flexible semiparametric analysis of longitudinal genetic studies by reduced rank smoothing.

Journal Of The Royal Statistical Society. Series C, Applied Statistics
Wang, Yuanjia Y; Huang, Chiahui C; Fang, Yixin Y; Yang, Qiong Q; Li, Runze R
Publication Date: 2012-01

Variant appearance in text: rs1052501
PubMed Link: 22581986
Variant Present in the following documents:
  • Main text
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Familial monoclonal gammopathy of undetermined significance and multiple myeloma: epidemiology, risk factors, and biological characteristics.

Blood
Greenberg, Alexandra J AJ; Rajkumar, S Vincent SV; Vachon, Celine M CM
Publication Date: 2012-06-07

Variant appearance in text: rs1052501
PubMed Link: 22354002
Variant Present in the following documents:
  • Main text
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Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.

Nature Genetics
Broderick, Peter P; Chubb, Daniel D; Johnson, David C DC; Weinhold, Niels N; Försti, Asta A; Lloyd, Amy A; Olver, Bianca B; Ma, Yussanne Y; Dobbins, Sara E SE; Walker, Brian A BA; Davies, Faith E FE; Gregory, Walter A WA; Childs, J Anthony JA; Ross, Fiona M FM; Jackson, Graham H GH; Neben, Kai K; Jauch, Anna A; Hoffmann, Per P; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Tomlinson, Ian P IP; Goldschmidt, Hartmut H; Hemminki, Kari K; Morgan, Gareth J GJ; Houlston, Richard S RS
Publication Date: 2011-11-27

Variant appearance in text: rs1052501
PubMed Link: 22120009
Variant Present in the following documents:
  • Main text
  • emss-37098.pdf
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Genome-wide association study of blood pressure and hypertension.

Nature Genetics
Levy, Daniel D; Ehret, Georg B GB; Rice, Kenneth K; Verwoert, Germaine C GC; Launer, Lenore J LJ; Dehghan, Abbas A; Glazer, Nicole L NL; Morrison, Alanna C AC; Johnson, Andrew D AD; Aspelund, Thor T; Aulchenko, Yurii Y; Lumley, Thomas T; Köttgen, Anna A; Vasan, Ramachandran S RS; Rivadeneira, Fernando F; Eiriksdottir, Gudny G; Guo, Xiuqing X; Arking, Dan E DE; Mitchell, Gary F GF; Mattace-Raso, Francesco U S FU; Smith, Albert V AV; Taylor, Kent K; Scharpf, Robert B RB; Hwang, Shih-Jen SJ; Sijbrands, Eric J G EJ; Bis, Joshua J; Harris, Tamara B TB; Ganesh, Santhi K SK; O'Donnell, Christopher J CJ; Hofman, Albert A; Rotter, Jerome I JI; Coresh, Josef J; Benjamin, Emelia J EJ; Uitterlinden, André G AG; Heiss, Gerardo G; Fox, Caroline S CS; Witteman, Jacqueline C M JC; Boerwinkle, Eric E; Wang, Thomas J TJ; Gudnason, Vilmundur V; Larson, Martin G MG; Chakravarti, Aravinda A; Psaty, Bruce M BM; van Duijn, Cornelia M CM
Publication Date: 2009-06

Variant appearance in text: rs1052501
PubMed Link: 19430479
Variant Present in the following documents:
  • Main text
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Tissue-specific genetic control of splicing: implications for the study of complex traits.

Plos Biology
Heinzen, Erin L EL; Ge, Dongliang D; Cronin, Kenneth D KD; Maia, Jessica M JM; Shianna, Kevin V KV; Gabriel, Willow N WN; Welsh-Bohmer, Kathleen A KA; Hulette, Christine M CM; Denny, Thomas N TN; Goldstein, David B DB
Publication Date: 2008-12-23

Variant appearance in text: rs1052501
PubMed Link: 19222302
Variant Present in the following documents:
  • pbio.1000001.pdf
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Genome-wide SNP typing reveals signatures of population history.

Genomics
Hughes, Austin L AL; Welch, Robert R; Puri, Vinita V; Matthews, Casey C; Haque, Kashif K; Chanock, Stephen J SJ; Yeager, Meredith M
Publication Date: 2008-07

Variant appearance in text: rs1052501
PubMed Link: 18485661
Variant Present in the following documents:
  • Main text
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