SLC22A3 c.1511-50G>A

Variant ID: 6-160868701-G-A

NM_021977.3(SLC22A3):c.1511-50G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease.

Journal Of The American College Of Cardiology
Schachtl-Riess, Johanna F JF; Kheirkhah, Azin A; Grüneis, Rebecca R; Di Maio, Silvia S; Schoenherr, Sebastian S; Streiter, Gertraud G; Losso, Jamie Lee JL; Paulweber, Bernhard B; Eckardt, Kai-Uwe KU; Köttgen, Anna A; Lamina, Claudia C; Kronenberg, Florian F; Coassin, Stefan S; ,
Publication Date: 2021-08-03

Variant appearance in text: rs2457574
PubMed Link: 34325833
Variant Present in the following documents:
  • EMS152741-supplement-Supplementary_File.pdf
View BVdb publication page



Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study.

Lipids In Health And Disease
Xia, Juan J; Guo, Chunyue C; Liu, Kuo K; Xie, Yunyi Y; Cao, Han H; Peng, Wenjuan W; Sun, Yanyan Y; Liu, Xiaohui X; Li, Bingxiao B; Zhang, Ling L
Publication Date: 2021-06-01

Variant appearance in text: rs2457574
PubMed Link: 34074296
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1482.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SLC22A3: 1511-50G>A; rs2457574
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2457574
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: SLC22A3: 1511-50G>A; rs2457574
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.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: rs2457574
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: rs2457574
PubMed Link: 28512139
Variant Present in the following documents:
  • 10.1194_M076232_jlr.M076232-1.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2457574
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page