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

RUNX1

Gene name: runt related transcription factor 1
OMIM ID: 151385
Chromosome location: 21q22.12

Polymorphisms

Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_001754.4
DNA Changec.59-2158T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs8130963
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA153 (67.70%)165 (82.50%)1
AG70 (30.97%)33 (16.50%)2.29 (1.43-3.65)0.0005
GG3 (1.33%)2 (1.00%)1.62 (0.27-9.81)0.6010
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 transcriptNC_000021.8
DNA Changeg.36423991C>T
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs17227210
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC53 (23.45%)71 (35.50%)1
CT123 (54.42%)92 (46.00%)1.79 (1.15-2.80)0.0106
TT50 (22.12%)37 (18.50%)1.81 (1.04-3.15)0.0359
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.