Variant ID: 16-230724-G-C

NM_005331.4(HBQ1):c.155G>C;(p.Gly52Ala)

This variant was identified in 3 publications




Publications:


Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Bmc Genomics
CJ Hodonsky, AR Baldassari, SA Bien, LM Raffield, HM Highland, CM Sitlani, GL Wojcik, R Tao, M Graff, W Tang, B Thyagarajan, S Buyske, M Fornage, LA Hindorff, Y Li, D Lin, AP Reiner, KE North, RJF Loos, C Kooperberg, CL Avery
Publication Date: 2020-03-14

Variant appearance in text: rs76613236
PubMed Link: 32171239
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: HBQ1: G52A
PubMed Link: 27422940
Variant Present in the following documents:
  • Main text
  • NIHMS803853-supplement-001410_-_Supplemental_Material.pdf
View BVdb publication page



Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American Journal Of Human Genetics
PL Auer, JM Johnsen, AD Johnson, BA Logsdon, LA Lange, MA Nalls, G Zhang, N Franceschini, K Fox, EM Lange, SS Rich, CJ O'Donnell, RD Jackson, RB Wallace, Z Chen, TA Graubert, JG Wilson, H Tang, G Lettre, AP Reiner, SK Ganesh, Y Li
Publication Date: 2012-11-02

Variant appearance in text: HBQ1: 155G>C; Gly52Ala; rs76613236
PubMed Link: 23103231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000199708.2 c.155G>C p.Gly52Ala missense_variant 2/3 -
NM_005331.5 c.155G>C p.Gly52Ala missense_variant 2/3 -