ADAMTS10 c.185G>A ;(p.R62Q)

Variant ID: 19-8670147-C-T

NM_030957.2(ADAMTS10):c.185G>A;(p.R62Q)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.

Nature Communications
Khurshid, Shaan S; Lazarte, Julieta J; Pirruccello, James P JP; Weng, Lu-Chen LC; Choi, Seung Hoan SH; Hall, Amelia W AW; Wang, Xin X; Friedman, Samuel F SF; Nauffal, Victor V; Biddinger, Kiran J KJ; Aragam, Krishna G KG; Batra, Puneet P; Ho, Jennifer E JE; Philippakis, Anthony A AA; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2023-03-21

Variant appearance in text: rs62621197
PubMed Link: 36944631
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_37173.pdf
  • 41467_2023_37173_MOESM2_ESM.pdf
  • 41467_2023_37173_MOESM1_ESM.pdf
View BVdb publication page



Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Nature Genetics
Shrine, Nick N; Izquierdo, Abril G AG; Chen, Jing J; Packer, Richard R; Hall, Robert J RJ; Guyatt, Anna L AL; Batini, Chiara C; Thompson, Rebecca J RJ; Pavuluri, Chandan C; Malik, Vidhi V; Hobbs, Brian D BD; Moll, Matthew M; Kim, Wonji W; Tal-Singer, Ruth R; Bakke, Per P; Fawcett, Katherine A KA; John, Catherine C; Coley, Kayesha K; Piga, Noemi Nicole NN; Pozarickij, Alfred A; Lin, Kuang K; Millwood, Iona Y IY; Chen, Zhengming Z; Li, Liming L; , ; Wijnant, Sara R A SRA; Lahousse, Lies L; Brusselle, Guy G; Uitterlinden, Andre G AG; Manichaikul, Ani A; Oelsner, Elizabeth C EC; Rich, Stephen S SS; Barr, R Graham RG; Kerr, Shona M SM; Vitart, Veronique V; Brown, Michael R MR; Wielscher, Matthias M; Imboden, Medea M; Jeong, Ayoung A; Bartz, Traci M TM; Gharib, Sina A SA; Flexeder, Claudia C; Karrasch, Stefan S; Gieger, Christian C; Peters, Annette A; Stubbe, Beate B; Hu, Xiaowei X; Ortega, Victor E VE; Meyers, Deborah A DA; Bleecker, Eugene R ER; Gabriel, Stacey B SB; Gupta, Namrata N; Smith, Albert Vernon AV; Luan, Jian'an J; Zhao, Jing-Hua JH; Hansen, Ailin F AF; Langhammer, Arnulf A; Willer, Cristen C; Bhatta, Laxmi L; Porteous, David D; Smith, Blair H BH; Campbell, Archie A; Sofer, Tamar T; Lee, Jiwon J; Daviglus, Martha L ML; Yu, Bing B; Lim, Elise E; Xu, Hanfei H; O'Connor, George T GT; Thareja, Gaurav G; Albagha, Omar M E OME; , ; Suhre, Karsten K; Granell, Raquel R; Faquih, Tariq O TO; Hiemstra, Pieter S PS; Slats, Annelies M AM; Mullin, Benjamin H BH; Hui, Jennie J; James, Alan A; Beilby, John J; Patasova, Karina K; Hysi, Pirro P; Koskela, Jukka T JT; Wyss, Annah B AB; Jin, Jianping J; Sikdar, Sinjini S; Lee, Mikyeong M; May-Wilson, Sebastian S; Pirastu, Nicola N; Kentistou, Katherine A KA; Joshi, Peter K PK; Timmers, Paul R H J PRHJ; Williams, Alexander T AT; Free, Robert C RC; Wang, Xueyang X; Morrison, John L JL; Gilliland, Frank D FD; Chen, Zhanghua Z; Wang, Carol A CA; Foong, Rachel E RE; Harris, Sarah E SE; Taylor, Adele A; Redmond, Paul P; Cook, James P JP; Mahajan, Anubha A; Lind, Lars L; Palviainen, Teemu T; Lehtimäki, Terho T; Raitakari, Olli T OT; Kaprio, Jaakko J; Rantanen, Taina T; Pietiläinen, Kirsi H KH; Cox, Simon R SR; Pennell, Craig E CE; Hall, Graham L GL; Gauderman, W James WJ; Brightling, Chris C; Wilson, James F JF; Vasankari, Tuula T; Laitinen, Tarja T; Salomaa, Veikko V; Mook-Kanamori, Dennis O DO; Timpson, Nicholas J NJ; Zeggini, Eleftheria E; Dupuis, Josée J; Hayward, Caroline C; Brumpton, Ben B; Langenberg, Claudia C; Weiss, Stefan S; Homuth, Georg G; Schmidt, Carsten Oliver CO; Probst-Hensch, Nicole N; Jarvelin, Marjo-Riitta MR; Morrison, Alanna C AC; Polasek, Ozren O; Rudan, Igor I; Lee, Joo-Hyeon JH; Sayers, Ian I; Rawlins, Emma L EL; Dudbridge, Frank F; Silverman, Edwin K EK; Strachan, David P DP; Walters, Robin G RG; Morris, Andrew P AP; London, Stephanie J SJ; Cho, Michael H MH; Wain, Louise V LV; Hall, Ian P IP; Tobin, Martin D MD
Publication Date: 2023-03

Variant appearance in text: rs62621197
PubMed Link: 36914875
Variant Present in the following documents:
  • 41588_2023_1314_MOESM1_ESM.pdf
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: ADAMTS10: R62Q
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: ADAMTS10: 185G>A; Arg62Gln
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications
Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K
Publication Date: 2022-03-24

Variant appearance in text: ADAMTS10: Arg62Gln; rs62621197
PubMed Link: 35332129
Variant Present in the following documents:
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 11
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 4
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 1
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 10
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.

Communications Biology
Pei, Yu-Fang YF; Liu, Yao-Zhong YZ; Yang, Xiao-Lin XL; Zhang, Hong H; Feng, Gui-Juan GJ; Wei, Xin-Tong XT; Zhang, Lei L
Publication Date: 2020-10-23

Variant appearance in text: rs62621197
PubMed Link: 33097823
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1334.pdf
View BVdb publication page



A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

Nature Communications
Wiberg, Akira A; Ng, Michael M; Schmid, Annina B AB; Smillie, Robert W RW; Baskozos, Georgios G; Holmes, Michael V MV; Künnapuu, K K; Mägi, R R; Bennett, David L DL; Furniss, Dominic D
Publication Date: 2019-03-04

Variant appearance in text: rs62621197
PubMed Link: 30833571
Variant Present in the following documents:
  • Main text
  • 41467_2019_8993_MOESM1_ESM.pdf
  • 41467_2019_Article_8993.pdf
View BVdb publication page



Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

Nature Communications
Rask-Andersen, Mathias M; Karlsson, Torgny T; Ek, Weronica E WE; Johansson, Åsa Å
Publication Date: 2019-01-21

Variant appearance in text: rs62621197
PubMed Link: 30664634
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_8000.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics
Galván-Femenía, Iván I; Obón-Santacana, Mireia M; Piñeyro, David D; Guindo-Martinez, Marta M; Duran, Xavier X; Carreras, Anna A; Pluvinet, Raquel R; Velasco, Juan J; Ramos, Laia L; Aussó, Susanna S; Mercader, J M JM; Puig, Lluis L; Perucho, Manuel M; Torrents, David D; Moreno, Victor V; Sumoy, Lauro L; de Cid, Rafael R
Publication Date: 2018-11

Variant appearance in text: rs62621197
PubMed Link: 30166351
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

American Journal Of Human Genetics
Tachmazidou, Ioanna I; Süveges, Dániel D; Min, Josine L JL; Ritchie, Graham R S GRS; Steinberg, Julia J; Walter, Klaudia K; Iotchkova, Valentina V; Schwartzentruber, Jeremy J; Huang, Jie J; Memari, Yasin Y; McCarthy, Shane S; Crawford, Andrew A AA; Bombieri, Cristina C; Cocca, Massimiliano M; Farmaki, Aliki-Eleni AE; Gaunt, Tom R TR; Jousilahti, Pekka P; Kooijman, Marjolein N MN; Lehne, Benjamin B; Malerba, Giovanni G; Männistö, Satu S; Matchan, Angela A; Medina-Gomez, Carolina C; Metrustry, Sarah J SJ; Nag, Abhishek A; Ntalla, Ioanna I; Paternoster, Lavinia L; Rayner, Nigel W NW; Sala, Cinzia C; Scott, William R WR; Shihab, Hashem A HA; Southam, Lorraine L; St Pourcain, Beate B; Traglia, Michela M; Trajanoska, Katerina K; Zaza, Gialuigi G; Zhang, Weihua W; Artigas, María S MS; Bansal, Narinder N; Benn, Marianne M; Chen, Zhongsheng Z; Danecek, Petr P; Lin, Wei-Yu WY; Locke, Adam A; Luan, Jian'an J; Manning, Alisa K AK; Mulas, Antonella A; Sidore, Carlo C; Tybjaerg-Hansen, Anne A; Varbo, Anette A; Zoledziewska, Magdalena M; Finan, Chris C; Hatzikotoulas, Konstantinos K; Hendricks, Audrey E AE; Kemp, John P JP; Moayyeri, Alireza A; Panoutsopoulou, Kalliope K; Szpak, Michal M; Wilson, Scott G SG; Boehnke, Michael M; Cucca, Francesco F; Di Angelantonio, Emanuele E; Langenberg, Claudia C; Lindgren, Cecilia C; McCarthy, Mark I MI; Morris, Andrew P AP; Nordestgaard, Børge G BG; Scott, Robert A RA; Tobin, Martin D MD; Wareham, Nicholas J NJ; , ; , ; Burton, Paul P; Chambers, John C JC; Smith, George Davey GD; Dedoussis, George G; Felix, Janine F JF; Franco, Oscar H OH; Gambaro, Giovanni G; Gasparini, Paolo P; Hammond, Christopher J CJ; Hofman, Albert A; Jaddoe, Vincent W V VWV; Kleber, Marcus M; Kooner, Jaspal S JS; Perola, Markus M; Relton, Caroline C; Ring, Susan M SM; Rivadeneira, Fernando F; Salomaa, Veikko V; Spector, Timothy D TD; Stegle, Oliver O; Toniolo, Daniela D; Uitterlinden, André G AG; , ; , ; , ; Barroso, Inês I; Greenwood, Celia M T CMT; Perry, John R B JRB; Walker, Brian R BR; Butterworth, Adam S AS; Xue, Yali Y; Durbin, Richard R; Small, Kerrin S KS; Soranzo, Nicole N; Timpson, Nicholas J NJ; Zeggini, Eleftheria E
Publication Date: 2017-06-01

Variant appearance in text: ADAMTS10: Arg62Gln; rs62621197
PubMed Link: 28552196
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc27.pdf
  • main.pdf
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Epigenetic and genetic components of height regulation.

Nature Communications
Benonisdottir, Stefania S; Oddsson, Asmundur A; Helgason, Agnar A; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Oskarsdottir, Arna A; Thorleifsson, Gudmar G; Davidsson, Olafur B OB; Arnadottir, Gudny A GA; Sulem, Gerald G; Jensson, Brynjar O BO; Holm, Hilma H; Alexandersson, Kristjan F KF; Tryggvadottir, Laufey L; Walters, G Bragi GB; Gudjonsson, Sigurjon A SA; Ward, Lucas D LD; Sigurdsson, Jon K JK; Iordache, Paul D PD; Frigge, Michael L ML; Rafnar, Thorunn T; Kong, Augustine A; Masson, Gisli G; Helgason, Hannes H; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K
Publication Date: 2016-11-16

Variant appearance in text: ADAMTS10: Arg62Gln; rs62621197
PubMed Link: 27848971
Variant Present in the following documents:
  • ncomms13490-s1.pdf
  • ncomms13490.pdf
View BVdb publication page



Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Publication Date: 2015

Variant appearance in text: rs62621197
PubMed Link: 25812849
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: ADAMTS10: R62Q; rs62621197
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page