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rs619203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C)
(C;G) 1.5 increases susceptibility to Myocardial Infarction 1.15 times
(G;G) None
ReferenceGRCh38 38.1/141
Chromosome6
Position117301021
GeneROS1
is asnp
is mentioned by
dbSNPrs619203
ebirs619203
HLIrs619203
Exacrs619203
Varsomers619203
Maprs619203
PheGenIrs619203
hapmaprs619203
1000 genomesrs619203
hgdprs619203
ensemblrs619203
gopubmedrs619203
geneviewrs619203
scholarrs619203
googlers619203
pharmgkbrs619203
gwascentralrs619203
openSNPrs619203
23andMers619203
23andMe allrs619203
SNP Nexus

SNPshotrs619203
SNPdbers619203
MSV3drs619203
GWAS Ctlgrs619203
GMAF0.1598
Max Magnitude1.5
? (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 16175505OA-icon.png]

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.


Neighborrs529156
Distance4


[PMID 22856164] [Evaluation of association between 9 genetic polymorphism and myocardial infarction in the Siberian population]

[PMID 18599554OA-icon.png] Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.

[PMID 19863298] ROS1 Asp2213Asn polymorphism is not associated with coronary artery disease in a Greek case-control study.


GET Evidence
ROS1-S2229C
aa_change Ser2229Cys
aa_change_short S2229C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.198271
summary



[PMID 24087953] [Genetic predictors of myocardial infarction in subjects of young age]