LPA c.2946-293A>G

Variant ID: 6-161022423-T-C

NM_005577.2(LPA):c.2946-293A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels.

Epigenetics
Jones, Gregory T GT; Marsman, Judith J; Bhat, Basharat B; Phillips, Victoria L VL; Chatterjee, Aniruddha A; Rodger, Euan J EJ; Williams, Michael J A MJA; van Rij, André M AM; McCormick, Sally P A SPA
Publication Date: 2020-09

Variant appearance in text: rs13192132
PubMed Link: 32237968
Variant Present in the following documents:
  • Main text
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: rs13192132
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
Zekavat, Seyedeh M SM; Ruotsalainen, Sanni S; Handsaker, Robert E RE; Alver, Maris M; Bloom, Jonathan J; Poterba, Timothy T; Seed, Cotton C; Ernst, Jason J; Chaffin, Mark M; Engreitz, Jesse J; Peloso, Gina M GM; Manichaikul, Ani A; Yang, Chaojie C; Ryan, Kathleen A KA; Fu, Mao M; Johnson, W Craig WC; Tsai, Michael M; Budoff, Matthew M; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Rotter, Jerome I JI; Rich, Stephen S SS; Post, Wendy W; Mitchell, Braxton D BD; Correa, Adolfo A; Metspalu, Andres A; Wilson, James G JG; Salomaa, Veikko V; Kellis, Manolis M; Daly, Mark J MJ; Neale, Benjamin M BM; McCarroll, Steven S; Surakka, Ida I; Esko, Tonu T; Ganna, Andrea A; Ripatti, Samuli S; Kathiresan, Sekar S; Natarajan, Pradeep P; ,
Publication Date: 2018-07-04

Variant appearance in text: rs13192132
PubMed Link: 29973585
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4668.pdf
  • 41467_2018_4668_MOESM1_ESM.pdf
View BVdb publication page



Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey.

Plos One
Dumitrescu, Logan L; Glenn, Kimberly K; Brown-Gentry, Kristin K; Shephard, Cynthia C; Wong, Michelle M; Rieder, Mark J MJ; Smith, Joshua D JD; Nickerson, Deborah A DA; Crawford, Dana C DC
Publication Date: 2011-01-28

Variant appearance in text: rs13192132
PubMed Link: 21305047
Variant Present in the following documents:
  • Main text
  • pone.0016604.pdf
View BVdb publication page