F2 c.423-7G>C

Variant ID: 11-46744925-G-C

NM_000506.3(F2):c.423-7G>C

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2070852
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2070852
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2070852
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2070852
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage
Young, D A DA; Barter, M J MJ; Soul, J J
Publication Date: 2021-11-11

Variant appearance in text: rs2070852
PubMed Link: 34774787
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage
Young, D A DA; Barter, M J MJ; Soul, J J
Publication Date: 2022-02

Variant appearance in text: rs2070852
PubMed Link: 34774787
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Genetics of osteoarthritis.

Osteoarthritis And Cartilage
Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J
Publication Date: 2022-05

Variant appearance in text: rs2070852
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Communications Biology
Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K
Publication Date: 2021-02-03

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 33536631
Variant Present in the following documents:
  • 42003_2020_1575_MOESM4_ESM.xlsx, sheet 11
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2021-03

Variant appearance in text: rs2070852
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-217834.pdf
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2020-10-14

Variant appearance in text: rs2070852
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-217834.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs2070852
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs2070852
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
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: F2: 423-7G>C; rs2070852
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: F2: 423-7G>C; rs2070852
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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: rs2070852
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS.

Plos One
Hoppmann, Anselm S AS; Schlosser, Pascal P; Backofen, Rolf R; Lausch, Ekkehart E; Köttgen, Anna A
Publication Date: 2016

Variant appearance in text: rs2070852
PubMed Link: 27612175
Variant Present in the following documents:
  • Main text
  • pone.0162466.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2070852
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF.

Breast Cancer Research : Bcr
Tinholt, Mari M; Vollan, Hans Kristian Moen HK; Sahlberg, Kristine Kleivi KK; Jernström, Sandra S; Kaveh, Fatemeh F; Lingjærde, Ole Christian OC; Kåresen, Rolf R; Sauer, Torill T; Kristensen, Vessela V; Børresen-Dale, Anne-Lise AL; Sandset, Per Morten PM; Iversen, Nina N
Publication Date: 2015-03-26

Variant appearance in text: rs2070852
PubMed Link: 25882602
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_548.pdf
View BVdb publication page



Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study.

Bmc Cancer
Tinholt, Mari M; Viken, Marte Kathrine MK; Dahm, Anders Erik AE; Vollan, Hans Kristian Moen HK; Sahlberg, Kristine Kleivi KK; Garred, Oystein O; Børresen-Dale, Anne-Lise AL; Jacobsen, Anne Flem AF; Kristensen, Vessela V; Bukholm, Ida I; Kåresen, Rolf R; Schlichting, Ellen E; Skretting, Grethe G; Lie, Benedicte Alexandra BA; Sandset, Per Morten PM; Iversen, Nina N
Publication Date: 2014-11-19

Variant appearance in text: rs2070852
PubMed Link: 25407022
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population.

Genomics & Informatics
Ham, Seokjin S; Roh, Tae-Young TY
Publication Date: 2014-09

Variant appearance in text: rs2070852
PubMed Link: 25317110
Variant Present in the following documents:
  • gni-12-114.pdf
View BVdb publication page



A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.

Bmc Medical Genetics
Rungroj, Nanyawan N; Nettuwakul, Choochai C; Sudtachat, Nirinya N; Praditsap, Oranud O; Sawasdee, Nunghathai N; Sritippayawan, Suchai S; Chuawattana, Duangporn D; Yenchitsomanus, Pa-Thai PT
Publication Date: 2014-05-02

Variant appearance in text: rs2070852
PubMed Link: 24886237
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-50.pdf
View BVdb publication page



Association between human prothrombin variant (T165M) and kidney stone disease.

Plos One
Rungroj, Nanyawan N; Sudtachat, Nirinya N; Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Jungtrakoon, Prapaporn P; Sritippayawan, Suchai S; Chuawattana, Duangporn D; Borvornpadungkitti, Sombat S; Predanon, Chagkrapan C; Susaengrat, Wattanachai W; Yenchitsomanus, Pa-Thai PT
Publication Date: 2012

Variant appearance in text: F2: 423-7G>C; rs2070852
PubMed Link: 23029076
Variant Present in the following documents:
  • Main text
  • pone.0045533.pdf
View BVdb publication page



Impact of common variation in bone-related genes on type 2 diabetes and related traits.

Diabetes
Billings, Liana K LK; Hsu, Yi-Hsiang YH; Ackerman, Rachel J RJ; Dupuis, Josée J; Voight, Benjamin F BF; Rasmussen-Torvik, Laura J LJ; Hercberg, Serge S; Lathrop, Mark M; Barnes, Daniel D; Langenberg, Claudia C; Hui, Jennie J; Fu, Mao M; Bouatia-Naji, Nabila N; Lecoeur, Cecile C; An, Ping P; Magnusson, Patrik K PK; Surakka, Ida I; Ripatti, Samuli S; Christiansen, Lene L; Dalgård, Christine C; Folkersen, Lasse L; Grundberg, Elin E; , ; , ; , ; , ; , ; Eriksson, Per P; Kaprio, Jaakko J; Ohm Kyvik, Kirsten K; Pedersen, Nancy L NL; Borecki, Ingrid B IB; Province, Michael A MA; Balkau, Beverley B; Froguel, Philippe P; Shuldiner, Alan R AR; Palmer, Lyle J LJ; Wareham, Nick N; Meneton, Pierre P; Johnson, Toby T; Pankow, James S JS; Karasik, David D; Meigs, James B JB; Kiel, Douglas P DP; Florez, Jose C JC
Publication Date: 2012-08

Variant appearance in text: rs2070852
PubMed Link: 22698912
Variant Present in the following documents:
  • Main text
  • 2176.pdf
View BVdb publication page



Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Nature Genetics
Estrada, Karol K; Styrkarsdottir, Unnur U; Evangelou, Evangelos E; Hsu, Yi-Hsiang YH; Duncan, Emma L EL; Ntzani, Evangelia E EE; Oei, Ling L; Albagha, Omar M E OM; Amin, Najaf N; Kemp, John P JP; Koller, Daniel L DL; Li, Guo G; Liu, Ching-Ti CT; Minster, Ryan L RL; Moayyeri, Alireza A; Vandenput, Liesbeth L; Willner, Dana D; Xiao, Su-Mei SM; Yerges-Armstrong, Laura M LM; Zheng, Hou-Feng HF; Alonso, Nerea N; Eriksson, Joel J; Kammerer, Candace M CM; Kaptoge, Stephen K SK; Leo, Paul J PJ; Thorleifsson, Gudmar G; Wilson, Scott G SG; Wilson, James F JF; Aalto, Ville V; Alen, Markku M; Aragaki, Aaron K AK; Aspelund, Thor T; Center, Jacqueline R JR; Dailiana, Zoe Z; Duggan, David J DJ; Garcia, Melissa M; Garcia-Giralt, Natàlia N; Giroux, Sylvie S; Hallmans, Göran G; Hocking, Lynne J LJ; Husted, Lise Bjerre LB; Jameson, Karen A KA; Khusainova, Rita R; Kim, Ghi Su GS; Kooperberg, Charles C; Koromila, Theodora T; Kruk, Marcin M; Laaksonen, Marika M; Lacroix, Andrea Z AZ; Lee, Seung Hun SH; Leung, Ping C PC; Lewis, Joshua R JR; Masi, Laura L; Mencej-Bedrac, Simona S; Nguyen, Tuan V TV; Nogues, Xavier X; Patel, Millan S MS; Prezelj, Janez J; Rose, Lynda M LM; Scollen, Serena S; Siggeirsdottir, Kristin K; Smith, Albert V AV; Svensson, Olle O; Trompet, Stella S; Trummer, Olivia O; van Schoor, Natasja M NM; Woo, Jean J; Zhu, Kun K; Balcells, Susana S; Brandi, Maria Luisa ML; Buckley, Brendan M BM; Cheng, Sulin S; Christiansen, Claus C; Cooper, Cyrus C; Dedoussis, George G; Ford, Ian I; Frost, Morten M; Goltzman, David D; González-Macías, Jesús J; Kähönen, Mika M; Karlsson, Magnus M; Khusnutdinova, Elza E; Koh, Jung-Min JM; Kollia, Panagoula P; Langdahl, Bente Lomholt BL; Leslie, William D WD; Lips, Paul P; Ljunggren, Östen Ö; Lorenc, Roman S RS; Marc, Janja J; Mellström, Dan D; Obermayer-Pietsch, Barbara B; Olmos, José M JM; Pettersson-Kymmer, Ulrika U; Reid, David M DM; Riancho, José A JA; Ridker, Paul M PM; Rousseau, François F; Slagboom, P Eline PE; Tang, Nelson L S NL; Urreizti, Roser R; Van Hul, Wim W; Viikari, Jorma J; Zarrabeitia, María T MT; Aulchenko, Yurii S YS; Castano-Betancourt, Martha M; Grundberg, Elin E; Herrera, Lizbeth L; Ingvarsson, Thorvaldur T; Johannsdottir, Hrefna H; Kwan, Tony T; Li, Rui R; Luben, Robert R; Medina-Gómez, Carolina C; Palsson, Stefan Th ST; Reppe, Sjur S; Rotter, Jerome I JI; Sigurdsson, Gunnar G; van Meurs, Joyce B J JB; Verlaan, Dominique D; Williams, Frances M K FM; Wood, Andrew R AR; Zhou, Yanhua Y; Gautvik, Kaare M KM; Pastinen, Tomi T; Raychaudhuri, Soumya S; Cauley, Jane A JA; Chasman, Daniel I DI; Clark, Graeme R GR; Cummings, Steven R SR; Danoy, Patrick P; Dennison, Elaine M EM; Eastell, Richard R; Eisman, John A JA; Gudnason, Vilmundur V; Hofman, Albert A; Jackson, Rebecca D RD; Jones, Graeme G; Jukema, J Wouter JW; Khaw, Kay-Tee KT; Lehtimäki, Terho T; Liu, Yongmei Y; Lorentzon, Mattias M; McCloskey, Eugene E; Mitchell, Braxton D BD; Nandakumar, Kannabiran K; Nicholson, Geoffrey C GC; Oostra, Ben A BA; Peacock, Munro M; Pols, Huibert A P HA; Prince, Richard L RL; Raitakari, Olli O; Reid, Ian R IR; Robbins, John J; Sambrook, Philip N PN; Sham, Pak Chung PC; Shuldiner, Alan R AR; Tylavsky, Frances A FA; van Duijn, Cornelia M CM; Wareham, Nick J NJ; Cupples, L Adrienne LA; Econs, Michael J MJ; Evans, David M DM; Harris, Tamara B TB; Kung, Annie Wai Chee AW; Psaty, Bruce M BM; Reeve, Jonathan J; Spector, Timothy D TD; Streeten, Elizabeth A EA; Zillikens, M Carola MC; Thorsteinsdottir, Unnur U; Ohlsson, Claes C; Karasik, David D; Richards, J Brent JB; Brown, Matthew A MA; Stefansson, Kari K; Uitterlinden, André G AG; Ralston, Stuart H SH; Ioannidis, John P A JP; Kiel, Douglas P DP; Rivadeneira, Fernando F
Publication Date: 2012-04-15

Variant appearance in text: rs2070852
PubMed Link: 22504420
Variant Present in the following documents:
  • NIHMS364577-supplement-1.pdf
View BVdb publication page



SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease.

Plos Genetics
Cruchaga, Carlos C; Kauwe, John S K JS; Mayo, Kevin K; Spiegel, Noah N; Bertelsen, Sarah S; Nowotny, Petra P; Shah, Aarti R AR; Abraham, Richard R; Hollingworth, Paul P; Harold, Denise D; Owen, Michael M MM; Williams, Julie J; Lovestone, Simon S; Peskind, Elaine R ER; Li, Ge G; Leverenz, James B JB; Galasko, Douglas D; , ; Morris, John C JC; Fagan, Anne M AM; Holtzman, David M DM; Goate, Alison M AM
Publication Date: 2010-09-16

Variant appearance in text: rs2070852
PubMed Link: 20862329
Variant Present in the following documents:
  • Main text
  • pgen.1001101.pdf
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Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.

Annals Of Internal Medicine
Richards, J Brent JB; Kavvoura, Fotini K FK; Rivadeneira, Fernando F; Styrkársdóttir, Unnur U; Estrada, Karol K; Halldórsson, Bjarni V BV; Hsu, Yi-Hsiang YH; Zillikens, M Carola MC; Wilson, Scott G SG; Mullin, Benjamin H BH; Amin, Najaf N; Aulchenko, Yurii S YS; Cupples, L Adrienne LA; Deloukas, Panagiotis P; Demissie, Serkalem S; Hofman, Albert A; Kong, Augustine A; Karasik, David D; van Meurs, Joyce B JB; Oostra, Ben A BA; Pols, Huibert A P HA; Sigurdsson, Gunnar G; Thorsteinsdottir, Unnur U; Soranzo, Nicole N; Williams, Frances M K FM; Zhou, Yanhua Y; Ralston, Stuart H SH; Thorleifsson, Gudmar G; van Duijn, Cornelia M CM; Kiel, Douglas P DP; Stefansson, Kari K; Uitterlinden, André G AG; Ioannidis, John P A JP; Spector, Tim D TD; ,
Publication Date: 2009-10-20

Variant appearance in text: rs2070852
PubMed Link: 19841454
Variant Present in the following documents:
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Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

Nature Genetics
Rivadeneira, Fernando F; Styrkársdottir, Unnur U; Estrada, Karol K; Halldórsson, Bjarni V BV; Hsu, Yi-Hsiang YH; Richards, J Brent JB; Zillikens, M Carola MC; Kavvoura, Fotini K FK; Amin, Najaf N; Aulchenko, Yurii S YS; Cupples, L Adrienne LA; Deloukas, Panagiotis P; Demissie, Serkalem S; Grundberg, Elin E; Hofman, Albert A; Kong, Augustine A; Karasik, David D; van Meurs, Joyce B JB; Oostra, Ben B; Pastinen, Tomi T; Pols, Huibert A P HA; Sigurdsson, Gunnar G; Soranzo, Nicole N; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Williams, Frances M K FM; Wilson, Scott G SG; Zhou, Yanhua Y; Ralston, Stuart H SH; van Duijn, Cornelia M CM; Spector, Timothy T; Kiel, Douglas P DP; Stefansson, Kari K; Ioannidis, John P A JP; Uitterlinden, André G AG; ,
Publication Date: 2009-11

Variant appearance in text: rs2070852
PubMed Link: 19801982
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Genomewide association studies of stroke.

The New England Journal Of Medicine
Ikram, M Arfan MA; Seshadri, Sudha S; Bis, Joshua C JC; Fornage, Myriam M; DeStefano, Anita L AL; Aulchenko, Yurii S YS; Debette, Stephanie S; Lumley, Thomas T; Folsom, Aaron R AR; van den Herik, Evita G EG; Bos, Michiel J MJ; Beiser, Alexa A; Cushman, Mary M; Launer, Lenore J LJ; Shahar, Eyal E; Struchalin, Maksim M; Du, Yangchun Y; Glazer, Nicole L NL; Rosamond, Wayne D WD; Rivadeneira, Fernando F; Kelly-Hayes, Margaret M; Lopez, Oscar L OL; Coresh, Josef J; Hofman, Albert A; DeCarli, Charles C; Heckbert, Susan R SR; Koudstaal, Peter J PJ; Yang, Qiong Q; Smith, Nicholas L NL; Kase, Carlos S CS; Rice, Kenneth K; Haritunians, Talin T; Roks, Gerwin G; de Kort, Paul L M PL; Taylor, Kent D KD; de Lau, Lonneke M LM; Oostra, Ben A BA; Uitterlinden, Andre G AG; Rotter, Jerome I JI; Boerwinkle, Eric E; Psaty, Bruce M BM; Mosley, Thomas H TH; van Duijn, Cornelia M CM; Breteler, Monique M B MM; Longstreth, W T WT; Wolf, Philip A PA
Publication Date: 2009-04-23

Variant appearance in text: rs2070852
PubMed Link: 19369658
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Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P
Publication Date: 2007-03

Variant appearance in text: rs2070852
PubMed Link: 17048007
Variant Present in the following documents:
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