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rs2335052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2335052(A;A)
Make rs2335052(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position128486108
GeneGATA2
is asnp
is mentioned by
dbSNPrs2335052
ebirs2335052
HLIrs2335052
Exacrs2335052
Varsomers2335052
Maprs2335052
PheGenIrs2335052
hapmaprs2335052
1000 genomesrs2335052
hgdprs2335052
ensemblrs2335052
gopubmedrs2335052
geneviewrs2335052
scholarrs2335052
googlers2335052
pharmgkbrs2335052
gwascentralrs2335052
openSNPrs2335052
23andMers2335052
23andMe allrs2335052
SNP Nexus

SNPshotrs2335052
SNPdbers2335052
MSV3drs2335052
GWAS Ctlgrs2335052
GMAF0.2424
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19706030OA-icon.png] Validation Study of Genetic Associations with Coronary Artery Disease on Chromosome 3q13-21 and Potential Effect Modification by Smoking


[PMID 19864173] Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease


[PMID 16934006OA-icon.png] GATA2 is associated with familial early-onset coronary artery disease.


GET Evidence
GATA2-A164T
aa_change Ala164Thr
aa_change_short A164T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.162607
summary



ClinVar
Risk rs2335052(A;A)
Alt rs2335052(A;A)
Reference rs2335052(G;G)
Significance Untested
Disease not specified
Variation info
Gene GATA2
CLNDBN not specified
Reversed 1
HGVS NC_000003.11:g.128204951C>T
CLNSRC ClinVar
CLNACC RCV000121149.1,



[PMID 26287967OA-icon.png] GATA2 rs2335052 Polymorphism Predicts the Survival of Patients with Colorectal Cancer