SPATA5L1 c.2095-902T>C

Variant ID: 15-45712339-T-C

NM_024063.2(SPATA5L1):c.2095-902T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Nature Communications
Morris, Andrew P AP; Le, Thu H TH; Wu, Haojia H; Akbarov, Artur A; van der Most, Peter J PJ; Hemani, Gibran G; Smith, George Davey GD; Mahajan, Anubha A; Gaulton, Kyle J KJ; Nadkarni, Girish N GN; Valladares-Salgado, Adan A; Wacher-Rodarte, Niels N; Mychaleckyj, Josyf C JC; Dueker, Nicole D ND; Guo, Xiuqing X; Hai, Yang Y; Haessler, Jeffrey J; Kamatani, Yoichiro Y; Stilp, Adrienne M AM; Zhu, Gu G; Cook, James P JP; Ärnlöv, Johan J; Blanton, Susan H SH; de Borst, Martin H MH; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Cechova, Sylvia S; Charchar, Fadi J FJ; Chu, Pei-Lun PL; Damman, Jeffrey J; Eales, James J; Gharavi, Ali G AG; Giedraitis, Vilmantas V; Heath, Andrew C AC; Ipp, Eli E; Kiryluk, Krzysztof K; Kramer, Holly J HJ; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Lu, Yingchang Y; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Raffel, Leslie J LJ; Sacco, Ralph L RL; Sanchez, Elena E; Stark, Holger H; Sundstrom, Johan J; Taylor, Kent D KD; Xiang, Anny H AH; Zivkovic, Aleksandra A; Lind, Lars L; Ingelsson, Erik E; Martin, Nicholas G NG; Whitfield, John B JB; Cai, Jianwen J; Laurie, Cathy C CC; Okada, Yukinori Y; Matsuda, Koichi K; Kooperberg, Charles C; Chen, Yii-Der Ida YI; Rundek, Tatjana T; Rich, Stephen S SS; Loos, Ruth J F RJF; Parra, Esteban J EJ; Cruz, Miguel M; Rotter, Jerome I JI; Snieder, Harold H; Tomaszewski, Maciej M; Humphreys, Benjamin D BD; Franceschini, Nora N
Publication Date: 2019-01-03

Variant appearance in text: rs2486288
PubMed Link: 30604766
Variant Present in the following documents:
  • 41467_2018_Article_7867.pdf
View BVdb publication page



Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.

Human Molecular Genetics
Mägi, Reedik R; Horikoshi, Momoko M; Sofer, Tamar T; Mahajan, Anubha A; Kitajima, Hidetoshi H; Franceschini, Nora N; McCarthy, Mark I MI; , ; Morris, Andrew P AP
Publication Date: 2017-09-15

Variant appearance in text: rs2486288
PubMed Link: 28911207
Variant Present in the following documents:
  • Main text
  • ddx280.pdf
View BVdb publication page



Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

American Journal Of Human Genetics
Mahajan, Anubha A; Rodan, Aylin R AR; Le, Thu H TH; Gaulton, Kyle J KJ; Haessler, Jeffrey J; Stilp, Adrienne M AM; Kamatani, Yoichiro Y; Zhu, Gu G; Sofer, Tamar T; Puri, Sanjana S; Schellinger, Jeffrey N JN; Chu, Pei-Lun PL; Cechova, Sylvia S; van Zuydam, Natalie N; , ; , ; Arnlov, Johan J; Flessner, Michael F MF; Giedraitis, Vilmantas V; Heath, Andrew C AC; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Reiner, Alex P AP; Sundström, Johan J; Thornton, Timothy A TA; Lind, Lars L; Ingelsson, Erik E; Cai, Jianwen J; Martin, Nicholas G NG; Kooperberg, Charles C; Matsuda, Koichi K; Whitfield, John B JB; Okada, Yukinori Y; Laurie, Cathy C CC; Morris, Andrew P AP; Franceschini, Nora N
Publication Date: 2016-09-01

Variant appearance in text: rs2486288
PubMed Link: 27588450
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page