Mendelian Diseases
Multifactorial Diseases
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

TBX3

Gene name: T-box 3
OMIM ID: 601621
Chromosome location: 12q24.21

Polymorphisms

Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_005996.3
DNA Changec.*739A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs8853
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC104 (46.02%)127 (63.50%)1
CT106 (46.90%)60 (30.00%)2.16 (1.43-3.25)0.0002
TT16 (7.08%)13 (6.50%)1.50 (0.69-3.27)0.3037
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.
Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_005996.3
DNA Changec.*1285A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs1061651
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT118 (52.21)140 (70.00)1
TC97 (42.92) 50 (25.00)2.30 (1.51-3.50)0.0001
CC11 (4.87) 10 (5.00)1.31 (0.54-3.18)0.5579
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.
Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_005996.3
DNA Changec.-184C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2242442
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG89 (39.38%)106 (53.00%)1
GA104 (46.02%)84 (42.00%)1.47 (0.99-2.21)0.0500
AA33 (14.60%)10 (5.00%)3.93 (1.84-8.42)0.0004
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.