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rs2305089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 2.2 higher risk for chordoma
Make rs2305089(C;C)
Make rs2305089(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position166165782
GeneT
is asnp
is mentioned by
dbSNPrs2305089
ebirs2305089
HLIrs2305089
Exacrs2305089
Varsomers2305089
Maprs2305089
PheGenIrs2305089
hapmaprs2305089
1000 genomesrs2305089
hgdprs2305089
ensemblrs2305089
gopubmedrs2305089
geneviewrs2305089
scholarrs2305089
googlers2305089
pharmgkbrs2305089
gwascentralrs2305089
openSNPrs2305089
23andMers2305089
23andMe allrs2305089
SNP Nexus

SNPshotrs2305089
SNPdbers2305089
MSV3drs2305089
GWAS Ctlgrs2305089
GMAF0.3903
Max Magnitude2.2
? (C;C) (C;T) (T;T) 28

[PMID 23064415] A common single-nucleotide variant in T is strongly associated with chordoma


GET Evidence
T-G177D
aa_change Gly177Asp
aa_change_short G177D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.426473
summary



[PMID 24232574OA-icon.png] The Brachyury Gly177Asp SNP Is not Associated with a Risk of Skull Base Chordoma in the Chinese Population


[PMID 26435504] T gene isoform expression pattern is significantly different between chordomas and notochords


[PMID 27663388] Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival.