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rs529156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G)
Make rs529156(A;A)
Make rs529156(A;C)
Make rs529156(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position117301025
GeneROS1
is asnp
is mentioned by
dbSNPrs529156
ebirs529156
HLIrs529156
Exacrs529156
Varsomers529156
Maprs529156
PheGenIrs529156
hapmaprs529156
1000 genomesrs529156
hgdprs529156
ensemblrs529156
gopubmedrs529156
geneviewrs529156
scholarrs529156
googlers529156
pharmgkbrs529156
gwascentralrs529156
openSNPrs529156
23andMers529156
23andMe allrs529156
SNP Nexus

SNPshotrs529156
SNPdbers529156
MSV3drs529156
GWAS Ctlgrs529156
GMAF0.1598
Max Magnitude
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene ROS1
allele G
frequency 0.25
sift
HuRef 1103652977667
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.



Neighborrs619203
Distance4
Neighborrs529038
Distance45


GET Evidence
ROS1-K2228Q
aa_change Lys2228Gln
aa_change_short K2228Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.198271
summary