SLC22A1 c.1385+4387C>T

Variant ID: 6-160569068-C-T

NM_003057.2(SLC22A1):c.1385+4387C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs62440901
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM5_ESM.pdf
View BVdb publication page



Association of Long-term Exposure to Elevated Lipoprotein(a) Levels With Parental Life Span, Chronic Disease-Free Survival, and Mortality Risk: A Mendelian Randomization Analysis.

Jama Network Open
Arsenault, Benoit J BJ; Pelletier, William W; Kaiser, Yannick Y; Perrot, Nicolas N; Couture, Christian C; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Bossé, Yohan Y; Pibarot, Philippe P; Stroes, Erik S G ESG; Mathieu, Patrick P; Thériault, Sébastien S; Boekholdt, S Matthijs SM
Publication Date: 2020-02-05

Variant appearance in text: rs62440901
PubMed Link: 32108890
Variant Present in the following documents:
  • jamanetwopen-3-e200129-s001.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs62440901
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: rs62440901
PubMed Link: 28512139
Variant Present in the following documents:
  • 10.1194_M076232_jlr.M076232-1.pdf
View BVdb publication page



A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.

Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
Publication Date: 2017-09

Variant appearance in text: rs62440901
PubMed Link: 28512139
Variant Present in the following documents:
  • 10.1194_M076232_jlr.M076232-1.pdf
View BVdb publication page