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

SMAD4

Gene name: SMAD family member 4
OMIM ID: 600993
Chromosome location: 18q21.2

Polymorphisms

Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_005359.5
DNA Changec.*5131A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs12456284
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA145 (64.16%)157 (78.50%)1
AG72 (31.86%)39 (19.50%)2.00 (1.27-3.14)0.0026
GG9 (3.98%)4 (2.00%)2.44 (0.73-8.08)0.1457
ReferenceMarouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.