CS c.43-207T>C

Variant ID: 12-56680636-A-G

NM_004077.2(CS):c.43-207T>C

This variant was identified in 5 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: rs2306694
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: rs2306694
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: rs2306694
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: CS: 43-207T>C; rs2306694
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal Of The National Cancer Institute
Qian, Frank F; Wang, Shengfeng S; Mitchell, Jonathan J; McGuffog, Lesley L; Barrowdale, Daniel D; Leslie, Goska G; Oosterwijk, Jan C JC; Chung, Wendy K WK; Evans, D Gareth DG; Engel, Christoph C; Kast, Karin K; Aalfs, Cora M CM; Adank, Muriel A MA; Adlard, Julian J; Agnarsson, Bjarni A BA; Aittomäki, Kristiina K; Alducci, Elisa E; Andrulis, Irene L IL; Arun, Banu K BK; Ausems, Margreet G E M MGEM; Azzollini, Jacopo J; Barouk-Simonet, Emmanuelle E; Barwell, Julian J; Belotti, Muriel M; Benitez, Javier J; Berger, Andreas A; Borg, Ake A; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Claes, Kathleen B M KBM; Margriet Collée, J J; Couch, Fergus J FJ; Coupier, Isabelle I; Daly, Mary B MB; Davidson, Rosemarie R; Diez, Orland O; Domchek, Susan M SM; Donaldson, Alan A; Dorfling, Cecilia M CM; Eeles, Ros R; Feliubadaló, Lidia L; Foretova, Lenka L; Fowler, Jeffrey J; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Garcia-Barberan, Vanesa V; Glendon, Gord G; Godwin, Andrew K AK; Gómez Garcia, Encarna B EB; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Henderson, Alex A; Hendricks, Carolyn B CB; Hopper, John L JL; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Ángel Á; Jakubowska, Anna A; Kaczmarek, Katarzyna K; Kang, Eunyoung E; Karlan, Beth Y BY; Kets, Carolien M CM; Kim, Sung-Won SW; Kim, Zisun Z; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Hyuk Lee, Min M; Won Lee, Jong J; Lee, Jihyoun J; Lester, Jenny J; Lesueur, Fabienne F; Loud, Jennifer T JT; Lubinski, Jan J; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mooij, Thea M TM; Morrison, Patrick J PJ; Mouret-Fourme, Emmanuelle E; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nielsen, Finn C FC; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Ong, Kai-Ren KR; Ottini, Laura L; Park, Sue K SK; Peterlongo, Paolo P; Pfeiler, Georg G; Phelan, Catherine M CM; Poppe, Bruce B; Pradhan, Nisha N; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Robson, Mark M; Rodriguez, Gustavo C GC; Schmutzler, Rita K RK; Hutten Selkirk, Christina G CG; Shah, Payal D PD; Simard, Jacques J; Singer, Christian F CF; Sokolowska, Johanna J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Yen Tan, Yen Y; Teixeira, R Manuel RM; Teo, Soo H SH; Terry, Mary Beth MB; Thomassen, Mads M; Tischkowitz, Marc M; Toland, Amanda E AE; Tucker, Katherine M KM; Tung, Nadine N; van Asperen, Christi J CJ; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Yannoukakos, Drakoulis D; , ; , ; , ; Greene, Mark H MH; Rookus, Matti A MA; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Goldgar, David E DE; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR; Huo, Dezheng D
Publication Date: 2019-04-01

Variant appearance in text: rs2306694
PubMed Link: 30312457
Variant Present in the following documents:
  • Main text
View BVdb publication page



Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)
Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM
Publication Date: 2016-03-08

Variant appearance in text: rs2306694
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
View BVdb publication page