CFH c.2669G>A ;(p.S890N)

Variant ID: 1-196706677-G-A

NM_000186.3(CFH):c.2669G>A;(p.S890N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology
Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A
Publication Date: 2022-06-28

Variant appearance in text: rs515299
PubMed Link: 35877417
Variant Present in the following documents:
  • cimb-44-00193.pdf
View BVdb publication page



PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods
Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ
Publication Date: 2017-09

Variant appearance in text: rs515299
PubMed Link: 28783153
Variant Present in the following documents:
  • NIHMS893716-supplement-2.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CFH: S890N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Complement factor H gene associations with end-stage kidney disease in African Americans.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Bonomo, Jason A JA; Palmer, Nicholette D ND; Hicks, Pamela J PJ; Lea, Janice P JP; Okusa, Mark D MD; Langefeld, Carl D CD; Bowden, Donald W DW; Freedman, Barry I BI
Publication Date: 2014-07

Variant appearance in text: rs515299
PubMed Link: 24586071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs515299
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page