PKD1 c.6598C>A ;(p.R2200S)

Variant ID: 16-2158570-G-T

NM_001009944.2(PKD1):c.6598C>A;(p.R2200S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

Nature Genetics
Giri, Ayush A; Hellwege, Jacklyn N JN; Keaton, Jacob M JM; Park, Jihwan J; Qiu, Chengxiang C; Warren, Helen R HR; Torstenson, Eric S ES; Kovesdy, Csaba P CP; Sun, Yan V YV; Wilson, Otis D OD; Robinson-Cohen, Cassianne C; Roumie, Christianne L CL; Chung, Cecilia P CP; Birdwell, Kelly A KA; Damrauer, Scott M SM; DuVall, Scott L SL; Klarin, Derek D; Cho, Kelly K; Wang, Yu Y; Evangelou, Evangelos E; Cabrera, Claudia P CP; Wain, Louise V LV; Shrestha, Rojesh R; Mautz, Brian S BS; Akwo, Elvis A EA; Sargurupremraj, Muralidharan M; Debette, Stéphanie S; Boehnke, Michael M; Scott, Laura J LJ; Luan, Jian'an J; Zhao, Jing-Hua JH; Willems, Sara M SM; Thériault, Sébastien S; Shah, Nabi N; Oldmeadow, Christopher C; Almgren, Peter P; Li-Gao, Ruifang R; Verweij, Niek N; Boutin, Thibaud S TS; Mangino, Massimo M; Ntalla, Ioanna I; Feofanova, Elena E; Surendran, Praveen P; Cook, James P JP; Karthikeyan, Savita S; Lahrouchi, Najim N; Liu, Chunyu C; Sepúlveda, Nuno N; Richardson, Tom G TG; Kraja, Aldi A; Amouyel, Philippe P; Farrall, Martin M; Poulter, Neil R NR; , ; , ; , ; Laakso, Markku M; Zeggini, Eleftheria E; Sever, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; Conen, David D; Palmer, Colin Neil Alexander CNA; Attia, John J; Chasman, Daniel I DI; Ridker, Paul M PM; Melander, Olle O; Mook-Kanamori, Dennis Owen DO; Harst, Pim van der PV; Cucca, Francesco F; Schlessinger, David D; Hayward, Caroline C; Spector, Tim D TD; Jarvelin, Marjo-Riitta MR; Hennig, Branwen J BJ; Timpson, Nicholas J NJ; Wei, Wei-Qi WQ; Smith, Joshua C JC; Xu, Yaomin Y; Matheny, Michael E ME; Siew, Edward E EE; Lindgren, Cecilia C; Herzig, Karl-Heinz KH; Dedoussis, George G; Denny, Joshua C JC; Psaty, Bruce M BM; Howson, Joanna M M JMM; Munroe, Patricia B PB; Newton-Cheh, Christopher C; Caulfield, Mark J MJ; Elliott, Paul P; Gaziano, J Michael JM; Concato, John J; Wilson, Peter W F PWF; Tsao, Philip S PS; Velez Edwards, Digna R DR; Susztak, Katalin K; , ; O'Donnell, Christopher J CJ; Hung, Adriana M AM; Edwards, Todd L TL
Publication Date: 2019-01

Variant appearance in text: rs140869992
PubMed Link: 30578418
Variant Present in the following documents:
  • Main text
  • nihms-1511350.pdf
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs140869992
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page