SP7 c.21+1455C>G

Variant ID: 12-53727955-G-C

NM_001173467.1(SP7):c.21+1455C>G

This variant was identified in 18 publications

View GRCh38 version.




Publications:


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: rs2016266
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs2016266
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
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AKAP11 gene polymorphism is associated with bone mass measured by quantitative ultrasound in young adults.

International Journal Of Medical Sciences
Correa-Rodríguez, María M; Schmidt Rio-Valle, Jacqueline J; Rueda-Medina, Blanca B
Publication Date: 2018

Variant appearance in text: rs2016266
PubMed Link: 30013441
Variant Present in the following documents:
  • Main text
  • ijmsv15p0999.pdf
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Association between EN1 rs4144782 and susceptibility of knee osteoarthritis: A case-control study.

Oncotarget
Li, Haohuan H; Zhang, Xiaolong X; Cao, Yiping Y; Hu, Song S; Peng, Fei F; Zhou, Jianlin J; Li, Jianping J
Publication Date: 2017-05-30

Variant appearance in text: rs2016266
PubMed Link: 28430581
Variant Present in the following documents:
  • Main text
  • oncotarget-08-36650.pdf
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Replication of Caucasian Loci Associated with Osteoporosis-related Traits in East Asians.

Journal Of Bone Metabolism
Kim, Beom-Jun BJ; Ahn, Seong Hee SH; Kim, Hyeon-Mok HM; Ikegawa, Shiro S; Yang, Tie-Lin TL; Guo, Yan Y; Deng, Hong-Wen HW; Koh, Jung-Min JM; Lee, Seung Hun SH
Publication Date: 2016-11

Variant appearance in text: rs2016266
PubMed Link: 27965945
Variant Present in the following documents:
  • Main text
  • jbm-23-233.pdf
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Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module.

Cell Systems
Calabrese, Gina M GM; Mesner, Larry D LD; Stains, Joseph P JP; Tommasini, Steven M SM; Horowitz, Mark C MC; Rosen, Clifford J CJ; Farber, Charles R CR
Publication Date: 2017-01-25

Variant appearance in text: rs2016266
PubMed Link: 27866947
Variant Present in the following documents:
  • Main text
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: rs2016266
PubMed Link: 27612175
Variant Present in the following documents:
  • Main text
  • pone.0162466.pdf
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Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence.

Human Molecular Genetics
Warrington, Nicole M NM; Kemp, John P JP; Tilling, Kate K; Tobias, Jonathan H JH; Evans, David M DM
Publication Date: 2015-07-15

Variant appearance in text: rs2016266
PubMed Link: 25941325
Variant Present in the following documents:
  • Main text
  • ddv143.pdf
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: rs2016266
PubMed Link: 25317110
Variant Present in the following documents:
  • Main text
  • gni-12-114.pdf
View BVdb publication page



Association analysis of BMD-associated SNPs with knee osteoarthritis.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Yerges-Armstrong, Laura M LM; Yau, Michelle S MS; Liu, Youfang Y; Krishnan, Subha S; Renner, Jordan B JB; Eaton, Charles B CB; Kwoh, C Kent CK; Nevitt, Michael C MC; Duggan, David J DJ; Mitchell, Braxton D BD; Jordan, Joanne M JM; Hochberg, Marc C MC; Jackson, Rebecca D RD
Publication Date: 2014-06

Variant appearance in text: rs2016266
PubMed Link: 24339167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical impact of recent genetic discoveries in osteoporosis.

The Application Of Clinical Genetics
Mitchell, Braxton D BD; Streeten, Elizabeth A EA
Publication Date: 2013-10-04

Variant appearance in text: rs2016266
PubMed Link: 24133373
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene set of nuclear-encoded mitochondrial regulators is enriched for common inherited variation in obesity.

Plos One
Knoll, Nadja N; Jarick, Ivonne I; Volckmar, Anna-Lena AL; Klingenspor, Martin M; Illig, Thomas T; Grallert, Harald H; Gieger, Christian C; Wichmann, Heinz-Erich HE; Peters, Annette A; Hebebrand, Johannes J; Scherag, André A; Hinney, Anke A
Publication Date: 2013

Variant appearance in text: rs2016266
PubMed Link: 23409076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bone mineral density-associated polymorphisms are associated with obesity-related traits in Korean adults in a sex-dependent manner.

Plos One
Cha, Seongwon S; Yu, Hyunjoo H; Kim, Jong Yeol JY
Publication Date: 2012

Variant appearance in text: rs2016266
PubMed Link: 23300848
Variant Present in the following documents:
  • Main text
  • pone.0053013.pdf
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Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa
Cheung, C-L CL; Sham, P-C PC; Xiao, S-M SM; Bow, C H CH; Kung, A W-C AW
Publication Date: 2012-01

Variant appearance in text: rs2016266
PubMed Link: 21927923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics
Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD
Publication Date: 2011-05

Variant appearance in text: rs2016266
PubMed Link: 21637794
Variant Present in the following documents:
  • Main text
  • pgen.1002078.pdf
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Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Ackert-Bicknell, Cheryl L CL; Karasik, David D; Li, Qian Q; Smith, Randy V RV; Hsu, Yi-Hsiang YH; Churchill, Gary A GA; Paigen, Beverly J BJ; Tsaih, Shirng-Wern SW
Publication Date: 2010-08

Variant appearance in text: rs2016266
PubMed Link: 20200990
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2016266
PubMed Link: 19801982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.

Human Molecular Genetics
Timpson, Nicholas J NJ; Tobias, Jon H JH; Richards, J Brent JB; Soranzo, Nicole N; Duncan, Emma L EL; Sims, Anne-Marie AM; Whittaker, Pamela P; Kumanduri, Vasudev V; Zhai, Guangju G; Glaser, Beate B; Eisman, John J; Jones, Graeme G; Nicholson, Geoff G; Prince, Richard R; Seeman, Ego E; Spector, Tim D TD; Brown, Matthew A MA; Peltonen, Leena L; Smith, George Davey GD; Deloukas, Panos P; Evans, David M DM
Publication Date: 2009-04-15

Variant appearance in text: rs2016266
PubMed Link: 19181680
Variant Present in the following documents:
  • Main text
  • ddp052.pdf
View BVdb publication page