Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Stroke, ischemic, susceptibility to

OMIM:601367
Mode of inheritance:Multifactorial
Disease classification:Diseases of the circulatory system


Polymorphisms

Gene symbolF5
Reference transcriptNM_000130.4
DNA Changec.2401C>T
A.A. Changep.Gln801X
Exon/Intronexon 13
Variation Typesubstitution
Reference SNPrs118203908
Cases170 patients
Controls211 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C193 (56.8%)351 (83.2%)1
T147 (43.2%)71 (16.8%)3.77 (2.70-5.25)<0.0001
CC57 (33.5%)150 (71.1%)1
CT79 (46.5%)51 (24.2%) 4.08 (2.55-6.49)<0.0001
TT 34 (20.0%)10 (4.7%)8.95 (4.15-19.29)<0.0001
ReferenceDiakite B1, Hamzi K, Hmimech W, Nadifi S; GMRAVC.First study of C2491T FV mutation with ischaemic stroke risk in Morocco.
J Genet. 2015 Jun;94(2):313-5.