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rs2243380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs2243380(A;A)
Make rs2243380(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position117403216
GeneROS1
is asnp
is mentioned by
dbSNPrs2243380
dbSNP (old)rs2243380
ClinGenrs2243380
ebirs2243380
HLIrs2243380
Exacrs2243380
Varsomers2243380
Maprs2243380
PheGenIrs2243380
Biobankrs2243380
1000 genomesrs2243380
hgdprs2243380
ensemblrs2243380
gopubmedrs2243380
geneviewrs2243380
scholarrs2243380
googlers2243380
pharmgkbrs2243380
gwascentralrs2243380
openSNPrs2243380
23andMers2243380
23andMe allrs2243380
SNP Nexus

SNPshotrs2243380
SNPdbers2243380
MSV3drs2243380
GWAS Ctlgrs2243380
GMAF0.06152
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ROS1
allele T
frequency 0.083
sift AFFECT FUNCTION
HuRef 1103652977805
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.



GET Evidence
ROS1-R167Q
aa_change Arg167Gln
aa_change_short R167Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0676706
summary