SH2B3 c.732+8368C>G

Variant ID: 12-111865049-C-G

NM_005475.2(SH2B3):c.732+8368C>G

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.

Hgg Advances
Canson, Daffodil M DM; O'Mara, Tracy A TA; Spurdle, Amanda B AB; Glubb, Dylan M DM
Publication Date: 2023-04-13

Variant appearance in text: SH2B3: 732+8368C>G; rs7310615
PubMed Link: 36908940
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.

Nature Communications
Pankratov, Vasili V; Yunusbaeva, Milyausha M; Ryakhovsky, Sergei S; Zarodniuk, Maksym M; , ; Yunusbayev, Bayazit B
Publication Date: 2022-11-18

Variant appearance in text: rs7310615
PubMed Link: 36400766
Variant Present in the following documents:
  • 41467_2022_34461_MOESM1_ESM.pdf
View BVdb publication page



Discovery of 42 genome-wide significant loci associated with dyslexia.

Nature Genetics
Doust, Catherine C; Fontanillas, Pierre P; Eising, Else E; Gordon, Scott D SD; Wang, Zhengjun Z; Alagöz, Gökberk G; Molz, Barbara B; , ; , ; Pourcain, Beate St BS; Francks, Clyde C; Marioni, Riccardo E RE; Zhao, Jingjing J; Paracchini, Silvia S; Talcott, Joel B JB; Monaco, Anthony P AP; Stein, John F JF; Gruen, Jeffrey R JR; Olson, Richard K RK; Willcutt, Erik G EG; DeFries, John C JC; Pennington, Bruce F BF; Smith, Shelley D SD; Wright, Margaret J MJ; Martin, Nicholas G NG; Auton, Adam A; Bates, Timothy C TC; Fisher, Simon E SE; Luciano, Michelle M
Publication Date: 2022-11

Variant appearance in text: rs7310615
PubMed Link: 36266505
Variant Present in the following documents:
  • 41588_2022_1192_MOESM1_ESM.pdf
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: rs7310615
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome.

Cells
Masselli, Elena E; Pozzi, Giulia G; Carubbi, Cecilia C; Vitale, Marco M
Publication Date: 2021-09-29

Variant appearance in text: rs7310615
PubMed Link: 34685575
Variant Present in the following documents:
  • Main text
  • cells-10-02597.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: rs7310615
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: rs7310615
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability.

Genome Biology
Ge, Xiangyu X; Frank-Bertoncelj, Mojca M; Klein, Kerstin K; McGovern, Amanda A; Kuret, Tadeja T; Houtman, Miranda M; Burja, Blaž B; Micheroli, Raphael R; Shi, Chenfu C; Marks, Miriam M; Filer, Andrew A; Buckley, Christopher D CD; Orozco, Gisela G; Distler, Oliver O; Morris, Andrew P AP; Martin, Paul P; Eyre, Stephen S; Ospelt, Caroline C
Publication Date: 2021-08-25

Variant appearance in text: rs7310615
PubMed Link: 34433485
Variant Present in the following documents:
  • Main text
  • 13059_2021_Article_2460.pdf
View BVdb publication page



Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs7310615
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs7310615
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs7310615
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Genetic approaches toward understanding the individual variation in cardiac structure, function and responses to exercise training.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology
Kim, Minsun M; Kim, Seung Kyum SK
Publication Date: 2021-01-01

Variant appearance in text: rs7310615
PubMed Link: 33361533
Variant Present in the following documents:
  • Main text
View BVdb publication page



TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis.

Journal Of Personalized Medicine
Lighezan, Diana L DL; Bojan, Anca S AS; Iancu, Mihaela M; Pop, Raluca M RM; Gligor-Popa, Ștefana Ș; Tripon, Florin F; Cosma, Adriana S AS; Tomuleasa, Ciprian C; Dima, Delia D; Zdrenghea, Mihnea M; Fetica, Bogdan B; Ioniță, Ioana I; Gaál, Ildikó O IO; Vișan, Simona S; Mirea, Andreea-Manuela AM; Popp, Radu A RA; Florea, Mira M; Araniciu, Cătălin C; Petrescu, Lucian L; Pop, Ioan V IV; Bănescu, Claudia C; Trifa, Adrian P AP
Publication Date: 2020-12-01

Variant appearance in text: rs7310615
PubMed Link: 33271790
Variant Present in the following documents:
  • Main text
  • jpm-10-00259.pdf
View BVdb publication page



Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.

Nature
Bao, Erik L EL; Nandakumar, Satish K SK; Liao, Xiaotian X; Bick, Alexander G AG; Karjalainen, Juha J; Tabaka, Marcin M; Gan, Olga I OI; Havulinna, Aki S AS; Kiiskinen, Tuomo T J TTJ; Lareau, Caleb A CA; de Lapuente Portilla, Aitzkoa L AL; Li, Bo B; Emdin, Connor C; Codd, Veryan V; Nelson, Christopher P CP; Walker, Christopher J CJ; Churchhouse, Claire C; de la Chapelle, Albert A; Klein, Daryl E DE; Nilsson, Björn B; Wilson, Peter W F PWF; Cho, Kelly K; Pyarajan, Saiju S; Gaziano, J Michael JM; Samani, Nilesh J NJ; , ; , ; Regev, Aviv A; Palotie, Aarno A; Neale, Benjamin M BM; Dick, John E JE; Natarajan, Pradeep P; O'Donnell, Christopher J CJ; Daly, Mark J MJ; Milyavsky, Michael M; Kathiresan, Sekar S; Sankaran, Vijay G VG
Publication Date: 2020-10

Variant appearance in text: rs7310615
PubMed Link: 33057200
Variant Present in the following documents:
  • Main text
  • nihms-1609342.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7310615
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Monogenic and polygenic inheritance become instruments for clonal selection.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08

Variant appearance in text: rs7310615
PubMed Link: 32581363
Variant Present in the following documents:
  • NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
View BVdb publication page



Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Nature Communications
Pirruccello, James P JP; Bick, Alexander A; Wang, Minxian M; Chaffin, Mark M; Friedman, Samuel S; Yao, Jie J; Guo, Xiuqing X; Venkatesh, Bharath Ambale BA; Taylor, Kent D KD; Post, Wendy S WS; Rich, Stephen S; Lima, Joao A C JAC; Rotter, Jerome I JI; Philippakis, Anthony A; Lubitz, Steven A SA; Ellinor, Patrick T PT; Khera, Amit V AV; Kathiresan, Sekar S; Aragam, Krishna G KG
Publication Date: 2020-05-07

Variant appearance in text: rs7310615
PubMed Link: 32382064
Variant Present in the following documents:
  • 41467_2020_15823_MOESM1_ESM.pdf
View BVdb publication page



Slowly Progressive Type 1 Diabetes Mellitus: Current Knowledge And Future Perspectives.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Nishimura, Akihiro A; Matsumura, Kimio K; Kikuno, Shota S; Nagasawa, Kaoru K; Okubo, Minoru M; Mori, Yasumichi Y; Kobayashi, Tetsuro T
Publication Date: 2019

Variant appearance in text: rs7310615
PubMed Link: 31819572
Variant Present in the following documents:
  • Main text
  • dmso-12-2461.pdf
View BVdb publication page



Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated With Cardiac Morphogenesis and Heart Failure Development.

Circulation
Aung, Nay N; Vargas, Jose D JD; Yang, Chaojie C; Cabrera, Claudia P CP; Warren, Helen R HR; Fung, Kenneth K; Tzanis, Evan E; Barnes, Michael R MR; Rotter, Jerome I JI; Taylor, Kent D KD; Manichaikul, Ani W AW; Lima, Joao A C JAC; Bluemke, David A DA; Piechnik, Stefan K SK; Neubauer, Stefan S; Munroe, Patricia B PB; Petersen, Steffen E SE
Publication Date: 2019-10-15

Variant appearance in text: rs7310615
PubMed Link: 31554410
Variant Present in the following documents:
  • Main text
  • cir-140-1318-s001.pdf
  • cir-140-1318.pdf
View BVdb publication page



Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.

Circulation
Gill, Dipender D; Georgakis, Marios K MK; Koskeridis, Fotios F; Jiang, Lan L; Feng, Qiping Q; Wei, Wei-Qi WQ; Theodoratou, Evropi E; Elliott, Paul P; Denny, Joshua C JC; Malik, Rainer R; Evangelou, Evangelos E; Dehghan, Abbas A; Dichgans, Martin M; Tzoulaki, Ioanna I
Publication Date: 2019-07-23

Variant appearance in text: rs7310615
PubMed Link: 31234639
Variant Present in the following documents:
  • cir-140-270-s001.pdf
View BVdb publication page



Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Human Genetics
Bonnemaijer, Pieter W M PWM; Iglesias, Adriana I AI; Nadkarni, Girish N GN; Sanyiwa, Anna J AJ; Hassan, Hassan G HG; Cook, Colin C; , ; Simcoe, Mark M; Taylor, Kent D KD; Schurmann, Claudia C; Belbin, Gillian M GM; Kenny, Eimear E EE; Bottinger, Erwin P EP; van de Laar, Suzanne S; Wiliams, Susan E I SEI; Akafo, Stephen K SK; Ashaye, Adeyinka O AO; Zangwill, Linda M LM; Girkin, Christopher A CA; Ng, Maggie C Y MCY; Rotter, Jerome I JI; Weinreb, Robert N RN; Li, Zheng Z; Allingham, R Rand RR; , ; Nag, Abhishek A; Hysi, Pirro G PG; Meester-Smoor, Magda A MA; Wiggs, Janey L JL; , ; Hauser, Michael A MA; Hammond, Christopher J CJ; Lemij, Hans G HG; Loos, Ruth J F RJF; van Duijn, Cornelia M CM; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW
Publication Date: 2018-10

Variant appearance in text: rs7310615
PubMed Link: 30317457
Variant Present in the following documents:
  • Main text
View BVdb publication page



First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

Diabetes Care
Cousminer, Diana L DL; Ahlqvist, Emma E; Mishra, Rajashree R; Andersen, Mette K MK; Chesi, Alessandra A; Hawa, Mohammad I MI; Davis, Asa A; Hodge, Kenyaita M KM; Bradfield, Jonathan P JP; Zhou, Kaixin K; Guy, Vanessa C VC; Åkerlund, Mikael M; Wod, Mette M; Fritsche, Lars G LG; Vestergaard, Henrik H; Snyder, James J; Højlund, Kurt K; Linneberg, Allan A; Käräjämäki, Annemari A; Brandslund, Ivan I; Kim, Cecilia E CE; Witte, Daniel D; Sørgjerd, Elin Pettersen EP; Brillon, David J DJ; Pedersen, Oluf O; Beck-Nielsen, Henning H; Grarup, Niels N; Pratley, Richard E RE; Rickels, Michael R MR; Vella, Adrian A; Ovalle, Fernando F; Melander, Olle O; Harris, Ronald I RI; Varvel, Stephen S; Grill, Valdemar E R VER; , ; Hakonarson, Hakon H; Froguel, Philippe P; Lonsdale, John T JT; Mauricio, Didac D; Schloot, Nanette C NC; Khunti, Kamlesh K; Greenbaum, Carla J CJ; Åsvold, Bjørn Olav BO; Yderstræde, Knud B KB; Pearson, Ewan R ER; Schwartz, Stanley S; Voight, Benjamin F BF; Hansen, Torben T; Tuomi, Tiinamaija T; Boehm, Bernhard O BO; Groop, Leif L; Leslie, R David RD; Grant, Struan F A SFA
Publication Date: 2018-11

Variant appearance in text: rs7310615
PubMed Link: 30254083
Variant Present in the following documents:
  • Main text
  • dc181032.pdf
View BVdb publication page



Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
Publication Date: 2018-07

Variant appearance in text: rs7310615
PubMed Link: 29995854
Variant Present in the following documents:
  • NIHMS968664-supplement-Supplementary_Notes_and_Tables.pdf
View BVdb publication page



Identifying the favored mutation in a positive selective sweep.

Nature Methods
Akbari, Ali A; Vitti, Joseph J JJ; Iranmehr, Arya A; Bakhtiari, Mehrdad M; Sabeti, Pardis C PC; Mirarab, Siavash S; Bafna, Vineet V
Publication Date: 2018-04

Variant appearance in text: rs7310615
PubMed Link: 29457793
Variant Present in the following documents:
  • NIHMS937763-supplement-3.pdf
View BVdb publication page



Coronary artery disease-associated genetic variants and biomarkers of inflammation.

Plos One
Christiansen, Morten Krogh MK; Larsen, Sanne Bøjet SB; Nyegaard, Mette M; Neergaard-Petersen, Søs S; Ajjan, Ramzi R; Würtz, Morten M; Grove, Erik Lerkevang EL; Hvas, Anne-Mette AM; Jensen, Henrik Kjærulf HK; Kristensen, Steen Dalby SD
Publication Date: 2017

Variant appearance in text: rs7310615
PubMed Link: 28686695
Variant Present in the following documents:
  • Main text
  • pone.0180365.pdf
View BVdb publication page



Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Genome Biology
Joehanes, Roby R; Zhang, Xiaoling X; Huan, Tianxiao T; Yao, Chen C; Ying, Sai-Xia SX; Nguyen, Quang Tri QT; Demirkale, Cumhur Yusuf CY; Feolo, Michael L ML; Sharopova, Nataliya R NR; Sturcke, Anne A; Schäffer, Alejandro A AA; Heard-Costa, Nancy N; Chen, Han H; Liu, Po-Ching PC; Wang, Richard R; Woodhouse, Kimberly A KA; Tanriverdi, Kahraman K; Freedman, Jane E JE; Raghavachari, Nalini N; Dupuis, Josée J; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Levy, Daniel D; Munson, Peter J PJ
Publication Date: 2017-01-25

Variant appearance in text: rs7310615
PubMed Link: 28122634
Variant Present in the following documents:
  • 13059_2016_1142_MOESM1_ESM.pdf
View BVdb publication page



Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Blood
Hinds, David A DA; Barnholt, Kimberly E KE; Mesa, Ruben A RA; Kiefer, Amy K AK; Do, Chuong B CB; Eriksson, Nicholas N; Mountain, Joanna L JL; Francke, Uta U; Tung, Joyce Y JY; Nguyen, Huong Marie HM; Zhang, Haiyu H; Gojenola, Linda L; Zehnder, James L JL; Gotlib, Jason J
Publication Date: 2016-08-25

Variant appearance in text: rs7310615
PubMed Link: 27365426
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs7310615
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
View BVdb publication page



Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nature Genetics
Bailey, Jessica N Cooke JN; Loomis, Stephanie J SJ; Kang, Jae H JH; Allingham, R Rand RR; Gharahkhani, Puya P; Khor, Chiea Chuen CC; Burdon, Kathryn P KP; Aschard, Hugues H; Chasman, Daniel I DI; Igo, Robert P RP; Hysi, Pirro G PG; Glastonbury, Craig A CA; Ashley-Koch, Allison A; Brilliant, Murray M; Brown, Andrew A AA; Budenz, Donald L DL; Buil, Alfonso A; Cheng, Ching-Yu CY; Choi, Hyon H; Christen, William G WG; Curhan, Gary G; De Vivo, Immaculata I; Fingert, John H JH; Foster, Paul J PJ; Fuchs, Charles C; Gaasterland, Douglas D; Gaasterland, Terry T; Hewitt, Alex W AW; Hu, Frank F; Hunter, David J DJ; Khawaja, Anthony P AP; Lee, Richard K RK; Li, Zheng Z; Lichter, Paul R PR; Mackey, David A DA; McGuffin, Peter P; Mitchell, Paul P; Moroi, Sayoko E SE; Perera, Shamira A SA; Pepper, Keating W KW; Qi, Qibin Q; Realini, Tony T; Richards, Julia E JE; Ridker, Paul M PM; Rimm, Eric E; Ritch, Robert R; Ritchie, Marylyn M; Schuman, Joel S JS; Scott, William K WK; Singh, Kuldev K; Sit, Arthur J AJ; Song, Yeunjoo E YE; Tamimi, Rulla M RM; Topouzis, Fotis F; Viswanathan, Ananth C AC; Verma, Shefali Setia SS; Vollrath, Douglas D; Wang, Jie Jin JJ; Weisschuh, Nicole N; Wissinger, Bernd B; Wollstein, Gadi G; Wong, Tien Y TY; Yaspan, Brian L BL; Zack, Donald J DJ; Zhang, Kang K; Study, Epic-Norfolk Eye EN; , ; Weinreb, Robert N RN; Pericak-Vance, Margaret A MA; Small, Kerrin K; Hammond, Christopher J CJ; Aung, Tin T; Liu, Yutao Y; Vithana, Eranga N EN; MacGregor, Stuart S; Craig, Jamie E JE; Kraft, Peter P; Howell, Gareth G; Hauser, Michael A MA; Pasquale, Louis R LR; Haines, Jonathan L JL; Wiggs, Janey L JL
Publication Date: 2016-02

Variant appearance in text: rs7310615
PubMed Link: 26752265
Variant Present in the following documents:
  • NIHMS744052-supplement-2.pdf
View BVdb publication page



A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

Human Molecular Genetics
de Vries, Paul S PS; Chasman, Daniel I DI; Sabater-Lleal, Maria M; Chen, Ming-Huei MH; Huffman, Jennifer E JE; Steri, Maristella M; Tang, Weihong W; Teumer, Alexander A; Marioni, Riccardo E RE; Grossmann, Vera V; Hottenga, Jouke J JJ; Trompet, Stella S; Müller-Nurasyid, Martina M; Zhao, Jing Hua JH; Brody, Jennifer A JA; Kleber, Marcus E ME; Guo, Xiuqing X; Wang, Jie Jin JJ; Auer, Paul L PL; Attia, John R JR; Yanek, Lisa R LR; Ahluwalia, Tarunveer S TS; Lahti, Jari J; Venturini, Cristina C; Tanaka, Toshiko T; Bielak, Lawrence F LF; Joshi, Peter K PK; Rocanin-Arjo, Ares A; Kolcic, Ivana I; Navarro, Pau P; Rose, Lynda M LM; Oldmeadow, Christopher C; Riess, Helene H; Mazur, Johanna J; Basu, Saonli S; Goel, Anuj A; Yang, Qiong Q; Ghanbari, Mohsen M; Willemsen, Gonneke G; Rumley, Ann A; Fiorillo, Edoardo E; de Craen, Anton J M AJ; Grotevendt, Anne A; Scott, Robert R; Taylor, Kent D KD; Delgado, Graciela E GE; Yao, Jie J; Kifley, Annette A; Kooperberg, Charles C; Qayyum, Rehan R; Lopez, Lorna M LM; Berentzen, Tina L TL; Räikkönen, Katri K; Mangino, Massimo M; Bandinelli, Stefania S; Peyser, Patricia A PA; Wild, Sarah S; Trégouët, David-Alexandre DA; Wright, Alan F AF; Marten, Jonathan J; Zemunik, Tatijana T; Morrison, Alanna C AC; Sennblad, Bengt B; Tofler, Geoffrey G; de Maat, Moniek P M MP; de Geus, Eco J C EJ; Lowe, Gordon D GD; Zoledziewska, Magdalena M; Sattar, Naveed N; Binder, Harald H; Völker, Uwe U; Waldenberger, Melanie M; Khaw, Kay-Tee KT; Mcknight, Barbara B; Huang, Jie J; Jenny, Nancy S NS; Holliday, Elizabeth G EG; Qi, Lihong L; Mcevoy, Mark G MG; Becker, Diane M DM; Starr, John M JM; Sarin, Antti-Pekka AP; Hysi, Pirro G PG; Hernandez, Dena G DG; Jhun, Min A MA; Campbell, Harry H; Hamsten, Anders A; Rivadeneira, Fernando F; Mcardle, Wendy L WL; Slagboom, P Eline PE; Zeller, Tanja T; Koenig, Wolfgang W; Psaty, Bruce M BM; Haritunians, Talin T; Liu, Jingmin J; Palotie, Aarno A; Uitterlinden, André G AG; Stott, David J DJ; Hofman, Albert A; Franco, Oscar H OH; Polasek, Ozren O; Rudan, Igor I; Morange, Pierre-Emmanuel PE; Wilson, James F JF; Kardia, Sharon L R SL; Ferrucci, Luigi L; Spector, Tim D TD; Eriksson, Johan G JG; Hansen, Torben T; Deary, Ian J IJ; Becker, Lewis C LC; Scott, Rodney J RJ; Mitchell, Paul P; März, Winfried W; Wareham, Nick J NJ; Peters, Annette A; Greinacher, Andreas A; Wild, Philipp S PS; Jukema, J Wouter JW; Boomsma, Dorret I DI; Hayward, Caroline C; Cucca, Francesco F; Tracy, Russell R; Watkins, Hugh H; Reiner, Alex P AP; Folsom, Aaron R AR; Ridker, Paul M PM; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Strachan, David P DP; Dehghan, Abbas A
Publication Date: 2016-01-15

Variant appearance in text: rs7310615
PubMed Link: 26561523
Variant Present in the following documents:
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