HBB c.118C>G ;(p.Q40E)

Variant ID: 11-5248004-G-C

NM_000518.4(HBB):c.118C>G;(p.Q40E)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.

Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Publication Date: 2022-12-01

Variant appearance in text: HBB: 118C>G; Q40E
PubMed Link: 36453528
Variant Present in the following documents:
  • elife-79713-supp2.xlsx, sheet 6
  • elife-79713-supp2.xlsx, sheet 1
View BVdb publication page



A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.

Frontiers In Immunology
Mocci, Stefano S; Littera, Roberto R; Tranquilli, Stefania S; Provenzano, Aldesia A; Mascia, Alessia A; Cannas, Federica F; Lai, Sara S; Giuressi, Erika E; Chessa, Luchino L; Angioni, Goffredo G; Campagna, Marcello M; Firinu, Davide D; Del Zompo, Maria M; La Nasa, Giorgio G; Perra, Andrea A; Giglio, Sabrina S
Publication Date: 2022

Variant appearance in text: rs11549407
PubMed Link: 35514995
Variant Present in the following documents:
  • Main text
  • fimmu-13-891147.pdf
View BVdb publication page



National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.

Genes
Smetana, Jan J; Brož, Petr P
Publication Date: 2022-03-21

Variant appearance in text: rs11549407
PubMed Link: 35328109
Variant Present in the following documents:
  • Main text
  • genes-13-00556.pdf
View BVdb publication page



Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.

Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21

Variant appearance in text: rs11549407
PubMed Link: 35064169
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4436.pdf
View BVdb publication page



Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.

Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21

Variant appearance in text: rs11549407
PubMed Link: 35064169
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4436.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: HBB: Q40E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A bird's-eye view of Italian genomic variation through whole-genome sequencing.

European Journal Of Human Genetics : Ejhg
Cocca, Massimiliano M; Barbieri, Caterina C; Concas, Maria Pina MP; Robino, Antonietta A; Brumat, Marco M; Gandin, Ilaria I; Trudu, Matteo M; Sala, Cinzia Felicita CF; Vuckovic, Dragana D; Girotto, Giorgia G; Matullo, Giuseppe G; Polasek, Ozren O; Kolčić, Ivana I; Gasparini, Paolo P; Soranzo, Nicole N; Toniolo, Daniela D; Mezzavilla, Massimo M
Publication Date: 2020-04

Variant appearance in text: rs11549407
PubMed Link: 31784700
Variant Present in the following documents:
  • Main text
  • 41431_2019_Article_551.pdf
View BVdb publication page



Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Nature Genetics
Zhou, Wei W; Nielsen, Jonas B JB; Fritsche, Lars G LG; Dey, Rounak R; Gabrielsen, Maiken E ME; Wolford, Brooke N BN; LeFaive, Jonathon J; VandeHaar, Peter P; Gagliano, Sarah A SA; Gifford, Aliya A; Bastarache, Lisa A LA; Wei, Wei-Qi WQ; Denny, Joshua C JC; Lin, Maoxuan M; Hveem, Kristian K; Kang, Hyun Min HM; Abecasis, Goncalo R GR; Willer, Cristen J CJ; Lee, Seunggeun S
Publication Date: 2018-09

Variant appearance in text: rs11549407
PubMed Link: 30104761
Variant Present in the following documents:
  • NIHMS977253-supplement-1.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs11549407
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
Bomba, Lorenzo L; Walter, Klaudia K; Soranzo, Nicole N
Publication Date: 2017-04-27

Variant appearance in text: rs11549407
PubMed Link: 28449691
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1212.pdf
View BVdb publication page



Investigation of mutations in the HBB gene using the 1,000 genomes database.

Plos One
Carlice-Dos-Reis, Tânia T; Viana, Jaime J; Moreira, Fabiano Cordeiro FC; Cardoso, Greice de Lemos GL; Guerreiro, João J; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â
Publication Date: 2017

Variant appearance in text: rs11549407
PubMed Link: 28379995
Variant Present in the following documents:
  • Main text
  • pone.0174637.pdf
View BVdb publication page



Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.

Plos One
Chassanidis, Christos C; Boutou, Effrossyni E; Voskaridou, Ersi E; Balassopoulou, Angeliki A
Publication Date: 2016

Variant appearance in text: rs11549407
PubMed Link: 27351925
Variant Present in the following documents:
  • Main text
  • pone.0157393.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: HBB: Q40E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



High-density SNP genotyping to define beta-globin locus haplotypes.

Blood Cells, Molecules & Diseases
Liu, Li L; Muralidhar, Shalini S; Singh, Manisha M; Sylvan, Caprice C; Kalra, Inderdeep S IS; Quinn, Charles T CT; Onyekwere, Onyinye C OC; Pace, Betty S BS
Publication Date: 2009

Variant appearance in text: rs11549407
PubMed Link: 18829352
Variant Present in the following documents:
  • Main text
View BVdb publication page