CFTR c.1680-124T>C

Variant ID: 7-117230283-T-C

NM_000492.3(CFTR):c.1680-124T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: rs17140229
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Reappraisal of known malaria resistance loci in a large multicenter study.

Nature Genetics
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Publication Date: 2014-11

Variant appearance in text: rs17140229
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: rs17140229
PubMed Link: 24934404
Variant Present in the following documents:
  • Main text
  • 1475-2875-13-236.pdf
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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: rs17140229
PubMed Link: 23614351
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: rs17140229
PubMed Link: 22957039
Variant Present in the following documents:
  • Main text
  • pone.0043987.pdf
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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: rs17140229
PubMed Link: 21867552
Variant Present in the following documents:
  • 1475-2875-10-250.pdf
View BVdb publication page