Have questions? Visit https://www.reddit.com/r/SNPedia

rs529038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A)
(C;T) 0
Make rs529038(A;G)
Make rs529038(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position117301070
GeneROS1
is asnp
is mentioned by
dbSNPrs529038
ebirs529038
HLIrs529038
Exacrs529038
Varsomers529038
Maprs529038
PheGenIrs529038
hapmaprs529038
1000 genomesrs529038
hgdprs529038
ensemblrs529038
gopubmedrs529038
geneviewrs529038
scholarrs529038
googlers529038
pharmgkbrs529038
gwascentralrs529038
openSNPrs529038
23andMers529038
23andMe allrs529038
SNP Nexus

SNPshotrs529038
SNPdbers529038
MSV3drs529038
GWAS Ctlgrs529038
GMAF0.1575
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene ROS1
allele T
frequency 0.25
sift TOLERATED
HuRef 1103652977668
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.



[PMID 19863298] rs529038, also known as Asp2213Asn, is not associated with coronary artery disease in a Greek case-control study of ~300 patients.

Neighborrs529156
Distance45
[PMID 16175505OA-icon.png] Identification of four gene variants associated with myocardial infarction.

[PMID 18506375] Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome.

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


GET Evidence
ROS1-D2213N
aa_change Asp2213Asn
aa_change_short D2213N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.19604
summary