TNFSF12 c.207+139C>G

Variant ID: 17-7452977-C-G

NM_003809.2(TNFSF12):c.207+139C>G

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: rs9899183
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs9899183
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: rs9899183
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults.

Genome Medicine
Hillary, Robert F RF; Trejo-Banos, Daniel D; Kousathanas, Athanasios A; McCartney, Daniel L DL; Harris, Sarah E SE; Stevenson, Anna J AJ; Patxot, Marion M; Ojavee, Sven Erik SE; Zhang, Qian Q; Liewald, David C DC; Ritchie, Craig W CW; Evans, Kathryn L KL; Tucker-Drob, Elliot M EM; Wray, Naomi R NR; McRae, Allan F AF; Visscher, Peter M PM; Deary, Ian J IJ; Robinson, Matthew R MR; Marioni, Riccardo E RE
Publication Date: 2020-07-08

Variant appearance in text: rs9899183
PubMed Link: 32641083
Variant Present in the following documents:
  • 13073_2020_754_MOESM3_ESM.pdf
View BVdb publication page



Investigation of Causal Effect of Atrial Fibrillation on Alzheimer Disease: A Mendelian Randomization Study.

Journal Of The American Heart Association
Pan, Yuesong Y; Wang, Yilong Y; Wang, Yongjun Y
Publication Date: 2020-01-21

Variant appearance in text: rs9899183
PubMed Link: 31914880
Variant Present in the following documents:
  • Main text
  • JAH3-9-e014889.pdf
View BVdb publication page



Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2019-04-23

Variant appearance in text: rs9899183
PubMed Link: 31015401
Variant Present in the following documents:
  • 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1
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: rs9899183
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

American Journal Of Human Genetics
Sung, Yun J YJ; Winkler, Thomas W TW; de Las Fuentes, Lisa L; Bentley, Amy R AR; Brown, Michael R MR; Kraja, Aldi T AT; Schwander, Karen K; Ntalla, Ioanna I; Guo, Xiuqing X; Franceschini, Nora N; Lu, Yingchang Y; Cheng, Ching-Yu CY; Sim, Xueling X; Vojinovic, Dina D; Marten, Jonathan J; Musani, Solomon K SK; Li, Changwei C; Feitosa, Mary F MF; Kilpeläinen, Tuomas O TO; Richard, Melissa A MA; Noordam, Raymond R; Aslibekyan, Stella S; Aschard, Hugues H; Bartz, Traci M TM; Dorajoo, Rajkumar R; Liu, Yongmei Y; Manning, Alisa K AK; Rankinen, Tuomo T; Smith, Albert Vernon AV; Tajuddin, Salman M SM; Tayo, Bamidele O BO; Warren, Helen R HR; Zhao, Wei W; Zhou, Yanhua Y; Matoba, Nana N; Sofer, Tamar T; Alver, Maris M; Amini, Marzyeh M; Boissel, Mathilde M; Chai, Jin Fang JF; Chen, Xu X; Divers, Jasmin J; Gandin, Ilaria I; Gao, Chuan C; Giulianini, Franco F; Goel, Anuj A; Harris, Sarah E SE; Hartwig, Fernando Pires FP; Horimoto, Andrea R V R ARVR; Hsu, Fang-Chi FC; Jackson, Anne U AU; Kähönen, Mika M; Kasturiratne, Anuradhani A; Kühnel, Brigitte B; Leander, Karin K; Lee, Wen-Jane WJ; Lin, Keng-Hung KH; 'an Luan, Jian J; McKenzie, Colin A CA; Meian, He H; Nelson, Christopher P CP; Rauramaa, Rainer R; Schupf, Nicole N; Scott, Robert A RA; Sheu, Wayne H H WHH; Stančáková, Alena A; Takeuchi, Fumihiko F; van der Most, Peter J PJ; Varga, Tibor V TV; Wang, Heming H; Wang, Yajuan Y; Ware, Erin B EB; Weiss, Stefan S; Wen, Wanqing W; Yanek, Lisa R LR; Zhang, Weihua W; Zhao, Jing Hua JH; Afaq, Saima S; Alfred, Tamuno T; Amin, Najaf N; Arking, Dan D; Aung, Tin T; Barr, R Graham RG; Bielak, Lawrence F LF; Boerwinkle, Eric E; Bottinger, Erwin P EP; Braund, Peter S PS; Brody, Jennifer A JA; Broeckel, Ulrich U; Cabrera, Claudia P CP; Cade, Brian B; Caizheng, Yu Y; Campbell, Archie A; Canouil, Mickaël M; Chakravarti, Aravinda A; , ; Chauhan, Ganesh G; Christensen, Kaare K; Cocca, Massimiliano M; , ; Collins, Francis S FS; Connell, John M JM; de Mutsert, Renée R; de Silva, H Janaka HJ; Debette, Stephanie S; Dörr, Marcus M; Duan, Qing Q; Eaton, Charles B CB; Ehret, Georg G; Evangelou, Evangelos E; Faul, Jessica D JD; Fisher, Virginia A VA; Forouhi, Nita G NG; Franco, Oscar H OH; Friedlander, Yechiel Y; Gao, He H; , ; Gigante, Bruna B; Graff, Misa M; Gu, C Charles CC; Gu, Dongfeng D; Gupta, Preeti P; Hagenaars, Saskia P SP; Harris, Tamara B TB; He, Jiang J; Heikkinen, Sami S; Heng, Chew-Kiat CK; Hirata, Makoto M; Hofman, Albert A; Howard, Barbara V BV; Hunt, Steven S; Irvin, Marguerite R MR; Jia, Yucheng Y; Joehanes, Roby R; Justice, Anne E AE; Katsuya, Tomohiro T; Kaufman, Joel J; Kerrison, Nicola D ND; Khor, Chiea Chuen CC; Koh, Woon-Puay WP; Koistinen, Heikki A HA; Komulainen, Pirjo P; Kooperberg, Charles C; Krieger, Jose E JE; Kubo, Michiaki M; Kuusisto, Johanna J; Langefeld, Carl D CD; Langenberg, Claudia C; Launer, Lenore J LJ; Lehne, Benjamin B; Lewis, Cora E CE; Li, Yize Y; , ; Lim, Sing Hui SH; Lin, Shiow S; Liu, Ching-Ti CT; Liu, Jianjun J; Liu, Jingmin J; Liu, Kiang K; Liu, Yeheng Y; Loh, Marie M; Lohman, Kurt K KK; Long, Jirong J; Louie, Tin T; Mägi, Reedik R; Mahajan, Anubha A; Meitinger, Thomas T; Metspalu, Andres A; Milani, Lili L; Momozawa, Yukihide Y; Morris, Andrew P AP; Mosley, Thomas H TH; Munson, Peter P; Murray, Alison D AD; Nalls, Mike A MA; Nasri, Ubaydah U; Norris, Jill M JM; North, Kari K; Ogunniyi, Adesola A; Padmanabhan, Sandosh S; Palmas, Walter R WR; Palmer, Nicholette D ND; Pankow, James S JS; Pedersen, Nancy L NL; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Raitakari, Olli T OT; Renström, Frida F; Rice, Treva K TK; Ridker, Paul M PM; Robino, Antonietta A; Robinson, Jennifer G JG; Rose, Lynda M LM; Rudan, Igor I; Sabanayagam, Charumathi C; Salako, Babatunde L BL; Sandow, Kevin K; Schmidt, Carsten O CO; Schreiner, Pamela J PJ; Scott, William R WR; Seshadri, Sudha S; Sever, Peter P; Sitlani, Colleen M CM; Smith, Jennifer A JA; Snieder, Harold H; Starr, John M JM; Strauch, Konstantin K; Tang, Hua H; Taylor, Kent D KD; Teo, Yik Ying YY; Tham, Yih Chung YC; Uitterlinden, André G AG; Waldenberger, Melanie M; Wang, Lihua L; Wang, Ya X YX; Wei, Wen Bin WB; Williams, Christine C; Wilson, Gregory G; Wojczynski, Mary K MK; Yao, Jie J; Yuan, Jian-Min JM; Zonderman, Alan B AB; Becker, Diane M DM; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Chen, Yii-Der Ida YI; de Faire, Ulf U; Deary, Ian J IJ; Esko, Tõnu T; Farrall, Martin M; Forrester, Terrence T; Franks, Paul W PW; Freedman, Barry I BI; Froguel, Philippe P; Gasparini, Paolo P; Gieger, Christian C; Horta, Bernardo Lessa BL; Hung, Yi-Jen YJ; Jonas, Jost B JB; Kato, Norihiro N; Kooner, Jaspal S JS; Laakso, Markku M; Lehtimäki, Terho T; Liang, Kae-Woei KW; Magnusson, Patrik K E PKE; Newman, Anne B AB; Oldehinkel, Albertine J AJ; Pereira, Alexandre C AC; Redline, Susan S; Rettig, Rainer R; Samani, Nilesh J NJ; Scott, James J; Shu, Xiao-Ou XO; van der Harst, Pim P; Wagenknecht, Lynne E LE; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wickremasinghe, Ananda R AR; Wu, Tangchun T; Zheng, Wei W; Kamatani, Yoichiro Y; Laurie, Cathy C CC; Bouchard, Claude C; Cooper, Richard S RS; Evans, Michele K MK; Gudnason, Vilmundur V; Kardia, Sharon L R SLR; Kritchevsky, Stephen B SB; Levy, Daniel D; O'Connell, Jeff R JR; Psaty, Bruce M BM; van Dam, Rob M RM; Sims, Mario M; Arnett, Donna K DK; Mook-Kanamori, Dennis O DO; Kelly, Tanika N TN; Fox, Ervin R ER; Hayward, Caroline C; Fornage, Myriam M; Rotimi, Charles N CN; Province, Michael A MA; van Duijn, Cornelia M CM; Tai, E Shyong ES; Wong, Tien Yin TY; Loos, Ruth J F RJF; Reiner, Alex P AP; Rotter, Jerome I JI; Zhu, Xiaofeng X; Bierut, Laura J LJ; Gauderman, W James WJ; Caulfield, Mark J MJ; Elliott, Paul P; Rice, Kenneth K; Munroe, Patricia B PB; Morrison, Alanna C AC; Cupples, L Adrienne LA; Rao, Dabeeru C DC; Chasman, Daniel I DI
Publication Date: 2018-03-01

Variant appearance in text: rs9899183
PubMed Link: 29455858
Variant Present in the following documents:
  • Main text
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: rs9899183
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.

European Journal Of Human Genetics : Ejhg
Bos, Steffan D SD; Lakenberg, Nico N; van der Breggen, Ruud R; Houwing-Duistermaat, Jeanine J JJ; Kloppenburg, Margreet M; de Craen, Anton J M AJ; Beekman, Marian M; Meulenbelt, Ingrid I; Slagboom, P Eline PE
Publication Date: 2010-08

Variant appearance in text: rs9899183
PubMed Link: 20407468
Variant Present in the following documents:
  • Main text
View BVdb publication page