CR1 c.6151A>G ;(p.R2051G)

Variant ID: 1-207782889-A-G

NM_000651.4(CR1):c.6151A>G;(p.R2051G)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: CR1: R2051G; rs17047661
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
D'Alterio, Giuseppe G; Lasorsa, Vito Alessandro VA; Bonfiglio, Ferdinando F; Cantalupo, Sueva S; Rosato, Barbara Eleni BE; Andolfo, Immacolata I; Russo, Roberta R; Esposito, Umberto U; Frisso, Giulia G; Abete, Pasquale P; Cassese, Gian Marco GM; Servillo, Giuseppe G; Gentile, Ivan I; Piscopo, Carmelo C; Della Monica, Matteo M; Fiorentino, Giuseppe G; Boccia, Angelo A; Paolella, Giovanni G; Ferrucci, Veronica V; de Antonellis, Pasqualino P; Siciliano, Roberto R; Asadzadeh, Fathem F; Cerino, Pellegrino P; Buonerba, Carlo C; Pierri, Biancamaria B; Zollo, Massimo M; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2022-08

Variant appearance in text: rs17047661
PubMed Link: 35511137
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: CR1: R2051G; rs17047661
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Methodological Appraisal of Literature Concerning the Analysis of Genetic Variants or Protein Levels of Complement Components on Susceptibility to Infection by Trypanosomatids: A Systematic Review.

Frontiers In Immunology
Tirado, Thais Cristina TC; Moura, Larine Lowry LL; Shigunov, Patrícia P; Figueiredo, Fabiano Borges FB
Publication Date: 2021

Variant appearance in text: rs17047661
PubMed Link: 34899745
Variant Present in the following documents:
  • Main text
  • fimmu-12-780810.pdf
View BVdb publication page



Host genetic susceptibility to mycetoma.

Plos Neglected Tropical Diseases
Ali, Rayan S RS; Newport, Melanie J MJ; Bakhiet, Sahar Mubarak SM; Ibrahim, Muntaser E ME; Fahal, Ahmed Hassan AH
Publication Date: 2020-04

Variant appearance in text: rs17047661
PubMed Link: 32352976
Variant Present in the following documents:
  • Main text
  • pntd.0008053.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: rs17047661
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs17047661
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Low-Frequency Blood Group Antigens in Switzerland.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Gassner, Christoph C; Degenhardt, Frauke F; Meyer, Stefan S; Vollmert, Caren C; Trost, Nadine N; Neuenschwander, Kathrin K; Merki, Yvonne Y; Portmann, Claudia C; Sigurdardottir, Sonja S; Zorbas, Antigoni A; Engström, Charlotte C; Gottschalk, Jochen J; Amar El Dusouqui, Soraya S; Waldvogel-Abramovski, Sophie S; Rigal, Emmanuel E; Tissot, Jean-Daniel JD; Tinguely, Caroline C; Mauvais, Simon M SM; Sarraj, Amira A; Bessero, Daniel D; Stalder, Michele M; Infanti, Laura L; Buser, Andreas A; Sigle, Jörg J; Weingand, Tina T; Castelli, Damiano D; Braisch, Monica C MC; Thierbach, Jutta J; Heer, Sonja S; Schulzki, Thomas T; Krawczak, Michael M; Franke, Andre A; Frey, Beat M BM
Publication Date: 2018-07

Variant appearance in text: rs17047661
PubMed Link: 30283273
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of Using Genotyped Reagent Red Blood Cells in Antibody Identification.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Scharberg, Erwin E; Rink, Gabi G; Portegys, Jan J; Rothenberger, Sina S; Gillhuber, Nicole N; Richter, Ekkehard E; Bugert, Peter P
Publication Date: 2018-07

Variant appearance in text: rs17047661
PubMed Link: 30283270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characteristics of Sinus Fungus Ball: A Unique Form of Rhinosinusitis.

Clinical Medicine Insights. Ear, Nose And Throat
Jiang, Rong-San RS; Huang, Wan-Chun WC; Liang, Kai-Li KL
Publication Date: 2018

Variant appearance in text: rs17047661
PubMed Link: 30090023
Variant Present in the following documents:
  • Main text
  • 10.1177_1179550618792254.pdf
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Two complement receptor one alleles have opposing associations with cerebral malaria and interact with α+thalassaemia.

Elife
Opi, D Herbert DH; Swann, Olivia O; Macharia, Alexander A; Uyoga, Sophie S; Band, Gavin G; Ndila, Carolyne M CM; Harrison, Ewen M EM; Thera, Mahamadou A MA; Kone, Abdoulaye K AK; Diallo, Dapa A DA; Doumbo, Ogobara K OK; Lyke, Kirsten E KE; Plowe, Christopher V CV; Moulds, Joann M JM; Shebbe, Mohammed M; Mturi, Neema N; Peshu, Norbert N; Maitland, Kathryn K; Raza, Ahmed A; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; Williams, Thomas N TN; Rowe, J Alexandra JA
Publication Date: 2018-04-25

Variant appearance in text: rs17047661
PubMed Link: 29690995
Variant Present in the following documents:
  • Main text
  • elife-31579.pdf
View BVdb publication page



Human complement receptor type 1 (CR1) protein levels and genetic variants in chronic Chagas Disease.

Scientific Reports
Sandri, Thaisa Lucas TL; Lidani, Kárita Cláudia Freitas KCF; Andrade, Fabiana Antunes FA; Meyer, Christian G CG; Kremsner, Peter G PG; de Messias-Reason, Iara J IJ; Velavan, Thirumalaisamy P TP
Publication Date: 2018-01-11

Variant appearance in text: rs17047661
PubMed Link: 29323238
Variant Present in the following documents:
  • Main text
View BVdb publication page



Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project.

Blood Advances
Möller, Mattias M; Jöud, Magnus M; Storry, Jill R JR; Olsson, Martin L ML
Publication Date: 2016-12-27

Variant appearance in text: rs17047661
PubMed Link: 29296939
Variant Present in the following documents:
  • Main text
View BVdb publication page



No Evidence that Knops Blood Group Polymorphisms Affect Complement Receptor 1 Clustering on Erythrocytes.

Scientific Reports
Swann, O V OV; Harrison, E M EM; Opi, D H DH; Nyatichi, E E; Macharia, A A; Uyoga, S S; Williams, T N TN; Rowe, J A JA
Publication Date: 2017-12-19

Variant appearance in text: rs17047661
PubMed Link: 29259218
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_17664.pdf
View BVdb publication page



The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American Journal Of Human Genetics
Laso-Jadart, Romuald R; Harmant, Christine C; Quach, Hélène H; Zidane, Nora N; Tyler-Smith, Chris C; Mehdi, Qasim Q; Ayub, Qasim Q; Quintana-Murci, Lluis L; Patin, Etienne E
Publication Date: 2017-12-07

Variant appearance in text: rs17047661
PubMed Link: 29129317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Geographical distribution of complement receptor type 1 variants and their associated disease risk.

Plos One
Lucas Sandri, Thaisa T; Adukpo, Selorme S; Giang, Dao Phuong DP; Nguetse, Christian N CN; Antunes Andrade, Fabiana F; Tong, Hoang van HV; Toan, Nguyen Linh NL; Song, Le Huu LH; Elumalai, Preetham P; Thangaraj, Kumarasamy K; Valluri, Vijaya Lakshmi VL; Ntoumi, Francine F; Meyer, Christian G CG; Jose de Messias Reason, Iara I; Kremsner, Peter G PG; Velavan, Thirumalaisamy P TP
Publication Date: 2017

Variant appearance in text: rs17047661
PubMed Link: 28520715
Variant Present in the following documents:
  • Main text
  • pone.0175973.pdf
View BVdb publication page



Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula.

Scientific Reports
Sazzini, Marco M; Gnecchi Ruscone, Guido Alberto GA; Giuliani, Cristina C; Sarno, Stefania S; Quagliariello, Andrea A; De Fanti, Sara S; Boattini, Alessio A; Gentilini, Davide D; Fiorito, Giovanni G; Catanoso, Mariagrazia M; Boiardi, Luigi L; Croci, Stefania S; Macchioni, Pierluigi P; Mantovani, Vilma V; Di Blasio, Anna Maria AM; Matullo, Giuseppe G; Salvarani, Carlo C; Franceschi, Claudio C; Pettener, Davide D; Garagnani, Paolo P; Luiselli, Donata D
Publication Date: 2016-09-01

Variant appearance in text: rs17047661
PubMed Link: 27582244
Variant Present in the following documents:
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17047661
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



High Incidence of Malaria Along the Sino-Burmese Border Is Associated With Polymorphisms of CR1, IL-1A, IL-4R, IL-4, NOS, and TNF, But Not With G6PD Deficiency.

Medicine
Ren, Na N; Kuang, Ying-Min YM; Tang, Qiong-Lin QL; Cheng, Long L; Zhang, Chun-Hua CH; Yang, Zao-Qing ZQ; He, Yong-Shu YS; Zhu, Yue-Chun YC
Publication Date: 2015-10

Variant appearance in text: rs17047661
PubMed Link: 26448013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severity of malaria in relation to a complement receptor 1 polymorphism: a case-control study.

Pathogens And Global Health
Tettey, Rebecca R; Ayeh-Kumi, Patrick P; Tettey, Prudence P; Adjei, George O GO; Asmah, Richard H RH; Dodoo, Daniel D
Publication Date: 2015-07

Variant appearance in text: rs17047661
PubMed Link: 25916414
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extensive genomic variability of knops blood group polymorphisms is associated with sickle cell disease in Africa.

Evolutionary Bioinformatics Online
Duru, Kimberley C KC; Noble, Jenelle A JA; Guindo, Aldiouma A; Yi, Li L; Imumorin, Ikhide G IG; Diallo, Dapa A DA; Thomas, Bolaji N BN
Publication Date: 2015

Variant appearance in text: rs17047661
PubMed Link: 25788827
Variant Present in the following documents:
  • Main text
  • ebo-11-2015-025.pdf
View BVdb publication page



The African Genome Variation Project shapes medical genetics in Africa.

Nature
Gurdasani, Deepti D; Carstensen, Tommy T; Tekola-Ayele, Fasil F; Pagani, Luca L; Tachmazidou, Ioanna I; Hatzikotoulas, Konstantinos K; Karthikeyan, Savita S; Iles, Louise L; Pollard, Martin O MO; Choudhury, Ananyo A; Ritchie, Graham R S GR; Xue, Yali Y; Asimit, Jennifer J; Nsubuga, Rebecca N RN; Young, Elizabeth H EH; Pomilla, Cristina C; Kivinen, Katja K; Rockett, Kirk K; Kamali, Anatoli A; Doumatey, Ayo P AP; Asiki, Gershim G; Seeley, Janet J; Sisay-Joof, Fatoumatta F; Jallow, Muminatou M; Tollman, Stephen S; Mekonnen, Ephrem E; Ekong, Rosemary R; Oljira, Tamiru T; Bradman, Neil N; Bojang, Kalifa K; Ramsay, Michele M; Adeyemo, Adebowale A; Bekele, Endashaw E; Motala, Ayesha A; Norris, Shane A SA; Pirie, Fraser F; Kaleebu, Pontiano P; Kwiatkowski, Dominic D; Tyler-Smith, Chris C; Rotimi, Charles C; Zeggini, Eleftheria E; Sandhu, Manjinder S MS
Publication Date: 2015-01-15

Variant appearance in text: rs17047661
PubMed Link: 25470054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CR1: R2051G; rs17047661
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Reappraisal of known malaria resistance loci in a large multicenter study.

Nature Genetics
, ; ,
Publication Date: 2014-11

Variant appearance in text: rs17047661
PubMed Link: 25261933
Variant Present in the following documents:
  • NIHMS626188-supplement-2.pdf
View BVdb publication page



Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.

Malaria Journal
Apinjoh, Tobias O TO; Anchang-Kimbi, Judith K JK; Njua-Yafi, Clarisse C; Ngwai, André N AN; Mugri, Regina N RN; Clark, Taane G TG; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Achidi, Eric A EA; ,
Publication Date: 2014-06-16

Variant appearance in text: rs17047661
PubMed Link: 24934404
Variant Present in the following documents:
  • Main text
  • 1475-2875-13-236.pdf
View BVdb publication page



Human genetic polymorphisms in the Knops blood group are not associated with a protective advantage against Plasmodium falciparum malaria in Southern Ghana.

Malaria Journal
Hansson, Helle H HH; Kurtzhals, Jørgen A JA; Goka, Bamenla Q BQ; Rodriques, Onike P OP; Nkrumah, Francis N FN; Theander, Thor G TG; Bygbjerg, Ib Christian IC; Alifrangis, Michael M
Publication Date: 2013-11-07

Variant appearance in text: rs17047661
PubMed Link: 24200236
Variant Present in the following documents:
  • Main text
  • 1475-2875-12-400.pdf
View BVdb publication page



Human candidate polymorphisms in sympatric ethnic groups differing in malaria susceptibility in Mali.

Plos One
Maiga, Bakary B; Dolo, Amagana A; Touré, Ousmane O; Dara, Victor V; Tapily, Amadou A; Campino, Susana S; Sepulveda, Nuno N; Risley, Paul P; Silva, Nilupa N; Silva, Nipula N; Corran, Patrick P; Rockett, Kirk A KA; Kwiatkowski, Dominic D; , ; Clark, Taane G TG; Troye-Blomberg, Marita M; Doumbo, Ogobara K OK
Publication Date: 2013

Variant appearance in text: rs17047661
PubMed Link: 24098393
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic risk of acute seizures in African children with falciparum malaria.

Epilepsia
Kariuki, Symon M SM; Rockett, Kirk K; Clark, Taane G TG; Reyburn, Hugh H; Agbenyega, Tsiri T; Taylor, Terrie E TE; Birbeck, Gretchen L GL; Williams, Thomas N TN; Newton, Charles R J C CR
Publication Date: 2013-06

Variant appearance in text: rs17047661
PubMed Link: 23614351
Variant Present in the following documents:
  • Main text
View BVdb publication page



Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Annals Of Human Genetics
Holton, Patrick P; Ryten, Mina M; Nalls, Michael M; Trabzuni, Daniah D; Weale, Michael E ME; Hernandez, Dena D; Crehan, Helen H; Gibbs, J Raphael JR; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; , ; Ramirez-Restrepo, Manuel M; Engel, Anzhelika A; Myers, Amanda J AJ; Corneveaux, Jason J JJ; Huentelman, Matthew J MJ; Dillman, Allissa A; Cookson, Mark R MR; Reiman, Eric M EM; Singleton, Andrew A; Hardy, John J; Guerreiro, Rita R
Publication Date: 2013-03

Variant appearance in text: CR1: Arg2051Gly; rs17047661
PubMed Link: 23360175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate polymorphisms and severe malaria in a Malian population.

Plos One
Toure, Ousmane O; Konate, Salimata S; Sissoko, Sibiri S; Niangaly, Amadou A; Barry, Abdoulaye A; Sall, Abdourahmane H AH; Diarra, Elisabeth E; Poudiougou, Belco B; Sepulveda, Nuno N; Campino, Susana S; Rockett, Kirk A KA; Clark, Taane G TG; Thera, Mahamadou A MA; Doumbo, Ogobara O; ,
Publication Date: 2012

Variant appearance in text: rs17047661
PubMed Link: 22957039
Variant Present in the following documents:
  • Main text
  • pone.0043987.pdf
View BVdb publication page



Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.

Malaria Journal
Diakite, Mahamadou M; Achidi, Eric A EA; Achonduh, Olivia O; Craik, Rachel R; Djimde, Abdoulaye A AA; Evehe, Marie-Solange B MS; Green, Angie A; Hubbart, Christina C; Ibrahim, Muntasir M; Jeffreys, Anna A; Khan, Baldip K BK; Kimani, Francis F; Kwiatkowski, Dominic P DP; Mbacham, Wilfred F WF; Jezan, Sabah Omar SO; Ouedraogo, Jean Bosco JB; Rockett, Kirk K; Rowlands, Kate K; Tagelsir, Nawal N; Tekete, Mamadou M MM; Zongo, Issaka I; Ranford-Cartwright, Lisa C LC
Publication Date: 2011-08-25

Variant appearance in text: rs17047661
PubMed Link: 21867552
Variant Present in the following documents:
  • 1475-2875-10-250.pdf
View BVdb publication page



DNA-based methods in the immunohematology reference laboratory.

Transfusion And Apheresis Science : Official Journal Of The World Apheresis Association : Official Journal Of The European Society For Haemapheresis
Reid, Marion E ME; Denomme, Gregory A GA
Publication Date: 2011-02

Variant appearance in text: rs17047661
PubMed Link: 21257350
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.

Malaria Journal
Eid, Nahid A NA; Hussein, Aymen A AA; Elzein, Abier M AM; Mohamed, Hiba S HS; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Ibrahim, Muntaser E ME
Publication Date: 2010-05-08

Variant appearance in text: rs17047661
PubMed Link: 20459687
Variant Present in the following documents:
  • Main text
  • 1475-2875-9-119.pdf
View BVdb publication page



Blood groups and malaria: fresh insights into pathogenesis and identification of targets for intervention.

Current Opinion In Hematology
Rowe, J Alexandra JA; Opi, D Herbert DH; Williams, Thomas N TN
Publication Date: 2009-11

Variant appearance in text: rs17047661
PubMed Link: 19812491
Variant Present in the following documents:
  • Main text
View BVdb publication page