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

ATR

Gene name: ATR serine/threonine kinase
OMIM ID: 601215
Chromosome location: 3q23

Polymorphisms

Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_001184.3
DNA Changec.632T>C
A.A. Changep.Met211Thr
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs2227928
Cases226 cases
Controls200 healthy women
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG78 (34.51%)94(47.00%)1
GA110 (48.67%)87(43.50%)1.52 (1.01-2.30)0.0448
AA38 (16.81%)19(9.50%)2.41 (1.29-4.51)0.0060
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.