From SNPedia
| ? | (C;C) (C;G) (G;G) | 28 |
|---|
 |
The G->C (Cys2229Ser) polymorphism (
rs619203) of the
ROS1 gene was significantly associated with atherothrombotic cerebral infarction in a study of 3,400+ Japanese adults.[
PMID 18566305]
An independent study of 3657 patients with myocardial infarction (885 women and 2772 men) and 1211 control individuals (598 women and 613 men) did not observe any correlation to this SNP.[PMID 19709766]
rs619203 increases susceptibility to Myocardial Infarction 1.15 times for heterozygotes (CG) and 1.75 times for homozygotes (TT) [PMID 16175505]
| Venter snp
|
| Source
| plos
|
| Gene
| ROS1
|
| allele
| C
|
| frequency
| 0.25
|
| sift
|
|
| HuRef
| 1103652977666
|
| Disease Association
| A chromosomal aberration involving ROS1 is found in glioblastoma multiform (GBM). An homozygous deletion in chromosome 6q21 results in expression of a GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity.
|
