EXO1 c.1515-1276C>T

Variant ID: 1-242040775-C-T

NM_130398.3(EXO1):c.1515-1276C>T

This variant was identified in 11 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: rs1635501
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genetic variants of age at menopause are not related to timing of ovarian failure in breast cancer survivors.

Menopause (New York, N.Y.)
Homer, Michael V MV; Charo, Lindsey M LM; Natarajan, Loki L; Haunschild, Carolyn C; Chung, Karine K; Mao, Jun J JJ; DeMichele, Angela M AM; Su, H Irene HI
Publication Date: 2017-06

Variant appearance in text: rs1635501
PubMed Link: 28118297
Variant Present in the following documents:
  • Main text
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Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Menopause (New York, N.Y.)
Pasquale, Louis R LR; Aschard, Hugues H; Kang, Jae H JH; Bailey, Jessica N Cooke JN; Lindström, Sara S; Chasman, Daniel I DI; Christen, William G WG; Allingham, R Rand RR; Ashley-Koch, Allison A; Lee, Richard K RK; Moroi, Sayoko E SE; Brilliant, Murray H MH; Wollstein, Gadi G; Schuman, Joel S JS; Fingert, John J; Budenz, Donald L DL; Realini, Tony T; Gaasterland, Terry T; Gaasterland, Douglas D; Scott, William K WK; Singh, Kuldev K; Sit, Arthur J AJ; Igo, Robert P RP; Song, Yeunjoo E YE; Hark, Lisa L; Ritch, Robert R; Rhee, Douglas J DJ; Gulati, Vikas V; Havens, Shane S; Vollrath, Douglas D; Zack, Donald J DJ; Medeiros, Felipe F; Weinreb, Robert N RN; Pericak-Vance, Margaret A MA; Liu, Yutao Y; Kraft, Peter P; Richards, Julia E JE; Rosner, Bernard A BA; Hauser, Michael A MA; Haines, Jonathan L JL; Wiggs, Janey L JL
Publication Date: 2017-02

Variant appearance in text: rs1635501
PubMed Link: 27760082
Variant Present in the following documents:
  • Main text
  • menop-24-150.pdf
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Age at menarche and age at natural menopause in East Asian women: a genome-wide association study.

Age (Dordrecht, Netherlands)
Shi, Jiajun J; Zhang, Ben B; Choi, Ji-Yeob JY; Gao, Yu-Tang YT; Li, Huaixing H; Lu, Wei W; Long, Jirong J; Kang, Daehee D; Xiang, Yong-Bing YB; Wen, Wanqing W; Park, Sue K SK; Ye, Xingwang X; Noh, Dong-Young DY; Zheng, Ying Y; Wang, Yiqin Y; Chung, Seokang S; Lin, Xu X; Cai, Qiuyin Q; Shu, Xiao-Ou XO
Publication Date: 2016-12

Variant appearance in text: rs1635501
PubMed Link: 27629107
Variant Present in the following documents:
  • Main text
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Ages at menarche- and menopause-related genetic variants in relation to terminal duct lobular unit involution in normal breast tissue.

Breast Cancer Research And Treatment
Oh, Hannah H; Bodelon, Clara C; Palakal, Maya M; Chatterjee, Nilanjan N; Sherman, Mark E ME; Linville, Laura L; Geller, Berta M BM; Vacek, Pamela M PM; Weaver, Donald L DL; Chicoine, Rachael E RE; Papathomas, Daphne D; Patel, Deesha A DA; Xiang, Jackie J; Clare, Susan E SE; Visscher, Daniel W DW; Mies, Carolyn C; Hewitt, Stephen M SM; Brinton, Louise A LA; Storniolo, Anna Maria V AM; He, Chunyan C; Garcia-Closas, Montserrat M; Chanock, Stephen J SJ; Gierach, Gretchen L GL; Figueroa, Jonine D JD
Publication Date: 2016-07

Variant appearance in text: rs1635501
PubMed Link: 27342457
Variant Present in the following documents:
  • Main text
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Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume.

Human Reproduction (Oxford, England)
Saxena, R R; Bjonnes, A C AC; Georgopoulos, N A NA; Koika, V V; Panidis, D D; Welt, C K CK
Publication Date: 2015-07

Variant appearance in text: rs1635501
PubMed Link: 25994816
Variant Present in the following documents:
  • Main text
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Meta-analysis of loci associated with age at natural menopause in African-American women.

Human Molecular Genetics
Chen, Christina T L CT; Liu, Ching-Ti CT; Chen, Gary K GK; Andrews, Jeanette S JS; Arnold, Alice M AM; Dreyfus, Jill J; Franceschini, Nora N; Garcia, Melissa E ME; Kerr, Kathleen F KF; Li, Guo G; Lohman, Kurt K KK; Musani, Solomon K SK; Nalls, Michael A MA; Raffel, Leslie J LJ; Smith, Jennifer J; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bernstein, Leslie L; Britton, Angela A; Brzyski, Robert G RG; Cappola, Anne A; Carlson, Christopher S CS; Couper, David D; Deming, Sandra L SL; Goodarzi, Mark O MO; Heiss, Gerardo G; John, Esther M EM; Lu, Xiaoning X; Le Marchand, Loic L; Marciante, Kristin K; Mcknight, Barbara B; Millikan, Robert R; Nock, Nora L NL; Olshan, Andrew F AF; Press, Michael F MF; Vaiyda, Dhananjay D; Woods, Nancy F NF; Taylor, Herman A HA; Zhao, Wei W; Zheng, Wei W; Evans, Michele K MK; Harris, Tamara B TB; Henderson, Brian E BE; Kardia, Sharon L R SL; Kooperberg, Charles C; Liu, Yongmei Y; Mosley, Thomas H TH; Psaty, Bruce B; Wellons, Melissa M; Windham, Beverly G BG; Zonderman, Alan B AB; Cupples, L Adrienne LA; Demerath, Ellen W EW; Haiman, Christopher C; Murabito, Joanne M JM; Rajkovic, Aleksandar A
Publication Date: 2014-06-15

Variant appearance in text: rs1635501
PubMed Link: 24493794
Variant Present in the following documents:
  • Main text
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Genomic markers of ovarian reserve.

Seminars In Reproductive Medicine
Wood, Michelle A MA; Rajkovic, Aleksandar A
Publication Date: 2013-11

Variant appearance in text: rs1635501
PubMed Link: 24101221
Variant Present in the following documents:
  • Main text
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Evaluating GWAS-identified SNPs for age at natural menopause among chinese women.

Plos One
Shen, Chong C; Delahanty, Ryan J RJ; Gao, Yu-Tang YT; Lu, Wei W; Xiang, Yong-Bing YB; Zheng, Ying Y; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO; Long, Jirong J
Publication Date: 2013

Variant appearance in text: rs1635501
PubMed Link: 23536822
Variant Present in the following documents:
  • Main text
  • pone.0058766.pdf
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Reproductive aging-associated common genetic variants and the risk of breast cancer.

Breast Cancer Research : Bcr
He, Chunyan C; Chasman, Daniel I DI; Dreyfus, Jill J; Hwang, Shih-Jen SJ; Ruiter, Rikje R; Sanna, Serena S; Buring, Julie E JE; Fernández-Rhodes, Lindsay L; Franceschini, Nora N; Hankinson, Susan E SE; Hofman, Albert A; Lunetta, Kathryn L KL; Palmieri, Giuseppe G; Porcu, Eleonora E; Rivadeneira, Fernando F; Rose, Lynda M LM; Splansky, Greta L GL; Stolk, Lisette L; Uitterlinden, André G AG; Chanock, Stephen J SJ; Crisponi, Laura L; Demerath, Ellen W EW; Murabito, Joanne M JM; Ridker, Paul M PM; Stricker, Bruno H BH; Hunter, David J DJ
Publication Date: 2012-03-20

Variant appearance in text: rs1635501
PubMed Link: 22433456
Variant Present in the following documents:
  • Main text
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

Nature Genetics
Stolk, Lisette L; Perry, John R B JR; Chasman, Daniel I DI; He, Chunyan C; Mangino, Massimo M; Sulem, Patrick P; Barbalic, Maja M; Broer, Linda L; Byrne, Enda M EM; Ernst, Florian F; Esko, Tõnu T; Franceschini, Nora N; Gudbjartsson, Daniel F DF; Hottenga, Jouke-Jan JJ; Kraft, Peter P; McArdle, Patrick F PF; Porcu, Eleonora E; Shin, So-Youn SY; Smith, Albert V AV; van Wingerden, Sophie S; Zhai, Guangju G; Zhuang, Wei V WV; Albrecht, Eva E; Alizadeh, Behrooz Z BZ; Aspelund, Thor T; Bandinelli, Stefania S; Lauc, Lovorka Barac LB; Beckmann, Jacques S JS; Boban, Mladen M; Boerwinkle, Eric E; Broekmans, Frank J FJ; Burri, Andrea A; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Constance C; Cornelis, Marilyn C MC; Corre, Tanguy T; Coviello, Andrea D AD; d'Adamo, Pio P; Davies, Gail G; de Faire, Ulf U; de Geus, Eco J C EJ; Deary, Ian J IJ; Dedoussis, George V Z GV; Deloukas, Panagiotis P; Ebrahim, Shah S; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan G JG; Fauser, Bart C J M BC; Ferreli, Liana L; Ferrucci, Luigi L; Fischer, Krista K; Folsom, Aaron R AR; Garcia, Melissa E ME; Gasparini, Paolo P; Gieger, Christian C; Glazer, Nicole N; Grobbee, Diederick E DE; Hall, Per P; Haller, Toomas T; Hankinson, Susan E SE; Hass, Merli M; Hayward, Caroline C; Heath, Andrew C AC; Hofman, Albert A; Ingelsson, Erik E; Janssens, A Cecile J W AC; Johnson, Andrew D AD; Karasik, David D; Kardia, Sharon L R SL; Keyzer, Jules J; Kiel, Douglas P DP; Kolcic, Ivana I; Kutalik, Zoltán Z; Lahti, Jari J; Lai, Sandra S; Laisk, Triin T; Laven, Joop S E JS; Lawlor, Debbie A DA; Liu, Jianjun J; Lopez, Lorna M LM; Louwers, Yvonne V YV; Magnusson, Patrik K E PK; Marongiu, Mara M; Martin, Nicholas G NG; Klaric, Irena Martinovic IM; Masciullo, Corrado C; McKnight, Barbara B; Medland, Sarah E SE; Melzer, David D; Mooser, Vincent V; Navarro, Pau P; Newman, Anne B AB; Nyholt, Dale R DR; Onland-Moret, N Charlotte NC; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peeters, Petra H M PH; Pistis, Giorgio G; Plump, Andrew S AS; Polasek, Ozren O; Pop, Victor J M VJ; Psaty, Bruce M BM; Räikkönen, Katri K; Rehnberg, Emil E; Rotter, Jerome I JI; Rudan, Igor I; Sala, Cinzia C; Salumets, Andres A; Scuteri, Angelo A; Singleton, Andrew A; Smith, Jennifer A JA; Snieder, Harold H; Soranzo, Nicole N; Stacey, Simon N SN; Starr, John M JM; Stathopoulou, Maria G MG; Stirrups, Kathleen K; Stolk, Ronald P RP; Styrkarsdottir, Unnur U; Sun, Yan V YV; Tenesa, Albert A; Thorand, Barbara B; Toniolo, Daniela D; Tryggvadottir, Laufey L; Tsui, Kim K; Ulivi, Sheila S; van Dam, Rob M RM; van der Schouw, Yvonne T YT; van Gils, Carla H CH; van Nierop, Peter P; Vink, Jacqueline M JM; Visscher, Peter M PM; Voorhuis, Marlies M; Waeber, Gérard G; Wallaschofski, Henri H; Wichmann, H Erich HE; Widen, Elisabeth E; Wijnands-van Gent, Colette J M CJ; Willemsen, Gonneke G; Wilson, James F JF; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Yerges-Armstrong, Laura M LM; Zemunik, Tatijana T; Zgaga, Lina L; Zillikens, M Carola MC; Zygmunt, Marek M; , ; Arnold, Alice M AM; Boomsma, Dorret I DI; Buring, Julie E JE; Crisponi, Laura L; Demerath, Ellen W EW; Gudnason, Vilmundur V; Harris, Tamara B TB; Hu, Frank B FB; Hunter, David J DJ; Launer, Lenore J LJ; Metspalu, Andres A; Montgomery, Grant W GW; Oostra, Ben A BA; Ridker, Paul M PM; Sanna, Serena S; Schlessinger, David D; Spector, Tim D TD; Stefansson, Kari K; Streeten, Elizabeth A EA; Thorsteinsdottir, Unnur U; Uda, Manuela M; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Völzke, Henry H; Murray, Anna A; Murabito, Joanne M JM; Visser, Jenny A JA; Lunetta, Kathryn L KL
Publication Date: 2012-01-22

Variant appearance in text: rs1635501
PubMed Link: 22267201
Variant Present in the following documents:
  • Main text
  • nihms342040.pdf
  • NIHMS342040-supplement-1.pdf
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