SGF29 c.-16+249C>G

Variant ID: 16-28565667-C-G

NM_138414.3(SGF29):c.-16+249C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs7191618
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs7191618
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7191618
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications
Lu, Yingchang Y; Day, Felix R FR; Gustafsson, Stefan S; Buchkovich, Martin L ML; Na, Jianbo J; Bataille, Veronique V; Cousminer, Diana L DL; Dastani, Zari Z; Drong, Alexander W AW; Esko, Tõnu T; Evans, David M DM; Falchi, Mario M; Feitosa, Mary F MF; Ferreira, Teresa T; Hedman, Åsa K ÅK; Haring, Robin R; Hysi, Pirro G PG; Iles, Mark M MM; Justice, Anne E AE; Kanoni, Stavroula S; Lagou, Vasiliki V; Li, Rui R; Li, Xin X; Locke, Adam A; Lu, Chen C; Mägi, Reedik R; Perry, John R B JR; Pers, Tune H TH; Qi, Qibin Q; Sanna, Marianna M; Schmidt, Ellen M EM; Scott, William R WR; Shungin, Dmitry D; Teumer, Alexander A; Vinkhuyzen, Anna A E AA; Walker, Ryan W RW; Westra, Harm-Jan HJ; Zhang, Mingfeng M; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Zhihong Z; Afzal, Uzma U; Ahluwalia, Tarunveer Singh TS; Bakker, Stephan J L SJ; Bellis, Claire C; Bonnefond, Amélie A; Borodulin, Katja K; Buchman, Aron S AS; Cederholm, Tommy T; Choh, Audrey C AC; Choi, Hyung Jin HJ; Curran, Joanne E JE; de Groot, Lisette C P G M LC; De Jager, Philip L PL; Dhonukshe-Rutten, Rosalie A M RA; Enneman, Anke W AW; Eury, Elodie E; Evans, Daniel S DS; Forsen, Tom T; Friedrich, Nele N; Fumeron, Frédéric F; Garcia, Melissa E ME; Gärtner, Simone S; Han, Bok-Ghee BG; Havulinna, Aki S AS; Hayward, Caroline C; Hernandez, Dena D; Hillege, Hans H; Ittermann, Till T; Kent, Jack W JW; Kolcic, Ivana I; Laatikainen, Tiina T; Lahti, Jari J; Mateo Leach, Irene I; Lee, Christine G CG; Lee, Jong-Young JY; Liu, Tian T; Liu, Youfang Y; Lobbens, Stéphane S; Loh, Marie M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Michaëlsson, Karl K; Nalls, Mike A MA; Nielson, Carrie M CM; Oozageer, Laticia L; Pascoe, Laura L; Paternoster, Lavinia L; Polašek, Ozren O; Ripatti, Samuli S; Sarzynski, Mark A MA; Shin, Chan Soo CS; Narančić, Nina Smolej NS; Spira, Dominik D; Srikanth, Priya P; Steinhagen-Thiessen, Elisabeth E; Sung, Yun Ju YJ; Swart, Karin M A KM; Taittonen, Leena L; Tanaka, Toshiko T; Tikkanen, Emmi E; van der Velde, Nathalie N; van Schoor, Natasja M NM; Verweij, Niek N; Wright, Alan F AF; Yu, Lei L; Zmuda, Joseph M JM; Eklund, Niina N; Forrester, Terrence T; Grarup, Niels N; Jackson, Anne U AU; Kristiansson, Kati K; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Lichtner, Peter P; Luan, Jian'an J; Mahajan, Anubha A; Männistö, Satu S; Palmer, Cameron D CD; Ried, Janina S JS; Scott, Robert A RA; Stancáková, Alena A; Wagner, Peter J PJ; Demirkan, Ayse A; Döring, Angela A; Gudnason, Vilmundur V; Kiel, Douglas P DP; Kühnel, Brigitte B; Mangino, Massimo M; Mcknight, Barbara B; Menni, Cristina C; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Shuldiner, Alan R AR; Song, Kijoung K; Vandenput, Liesbeth L; van Duijn, Cornelia M CM; Vollenweider, Peter P; White, Charles C CC; Boehnke, Michael M; Boettcher, Yvonne Y; Cooper, Richard S RS; Forouhi, Nita G NG; Gieger, Christian C; Grallert, Harald H; Hingorani, Aroon A; Jørgensen, Torben T; Jousilahti, Pekka P; Kivimaki, Mika M; Kumari, Meena M; Laakso, Markku M; Langenberg, Claudia C; Linneberg, Allan A; Luke, Amy A; Mckenzie, Colin A CA; Palotie, Aarno A; Pedersen, Oluf O; Peters, Annette A; Strauch, Konstantin K; Tayo, Bamidele O BO; Wareham, Nicholas J NJ; Bennett, David A DA; Bertram, Lars L; Blangero, John J; Blüher, Matthias M; Bouchard, Claude C; Campbell, Harry H; Cho, Nam H NH; Cummings, Steven R SR; Czerwinski, Stefan A SA; Demuth, Ilja I; Eckardt, Rahel R; Eriksson, Johan G JG; Ferrucci, Luigi L; Franco, Oscar H OH; Froguel, Philippe P; Gansevoort, Ron T RT; Hansen, Torben T; Harris, Tamara B TB; Hastie, Nicholas N; Heliövaara, Markku M; Hofman, Albert A; Jordan, Joanne M JM; Jula, Antti A; Kähönen, Mika M; Kajantie, Eero E; Knekt, Paul B PB; Koskinen, Seppo S; Kovacs, Peter P; Lehtimäki, Terho T; Lind, Lars L; Liu, Yongmei Y; Orwoll, Eric S ES; Osmond, Clive C; Perola, Markus M; Pérusse, Louis L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Rivadeneira, Fernando F; Rudan, Igor I; Salomaa, Veikko V; Sørensen, Thorkild I A TI; Stumvoll, Michael M; Tönjes, Anke A; Towne, Bradford B; Tranah, Gregory J GJ; Tremblay, Angelo A; Uitterlinden, André G AG; van der Harst, Pim P; Vartiainen, Erkki E; Viikari, Jorma S JS; Vitart, Veronique V; Vohl, Marie-Claude MC; Völzke, Henry H; Walker, Mark M; Wallaschofski, Henri H; Wild, Sarah S; Wilson, James F JF; Yengo, Loïc L; Bishop, D Timothy DT; Borecki, Ingrid B IB; Chambers, John C JC; Cupples, L Adrienne LA; Dehghan, Abbas A; Deloukas, Panos P; Fatemifar, Ghazaleh G; Fox, Caroline C; Furey, Terrence S TS; Franke, Lude L; Han, Jiali J; Hunter, David J DJ; Karjalainen, Juha J; Karpe, Fredrik F; Kaplan, Robert C RC; Kooner, Jaspal S JS; McCarthy, Mark I MI; Murabito, Joanne M JM; Morris, Andrew P AP; Bishop, Julia A N JA; North, Kari E KE; Ohlsson, Claes C; Ong, Ken K KK; Prokopenko, Inga I; Richards, J Brent JB; Schadt, Eric E EE; Spector, Tim D TD; Widén, Elisabeth E; Willer, Cristen J CJ; Yang, Jian J; Ingelsson, Erik E; Mohlke, Karen L KL; Hirschhorn, Joel N JN; Pospisilik, John Andrew JA; Zillikens, M Carola MC; Lindgren, Cecilia C; Kilpeläinen, Tuomas Oskari TO; Loos, Ruth J F RJ
Publication Date: 2016-02-01

Variant appearance in text: rs7191618
PubMed Link: 26833246
Variant Present in the following documents:
  • ncomms10495-s1.pdf
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N
Publication Date: 2013-11

Variant appearance in text: rs7191618
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page