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rs2713604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T)
Make rs2713604(A;A)
Make rs2713604(A;G)
Make rs2713604(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position128481616
GeneGATA2
is asnp
is mentioned by
dbSNPrs2713604
dbSNP (classic)rs2713604
ClinGenrs2713604
ebirs2713604
HLIrs2713604
Exacrs2713604
Gnomadrs2713604
Varsomers2713604
LitVarrs2713604
Maprs2713604
PheGenIrs2713604
Biobankrs2713604
1000 genomesrs2713604
hgdprs2713604
ensemblrs2713604
geneviewrs2713604
scholarrs2713604
googlers2713604
pharmgkbrs2713604
gwascentralrs2713604
openSNPrs2713604
23andMers2713604
SNPshotrs2713604
SNPdbers2713604
MSV3drs2713604
GWAS Ctlgrs2713604
GMAF0.3049
Max Magnitude0
? (A;A) (A;G) (G;G) 28


This paper implicates this snp as playing a role in heart disease.

Having a C at this position is considered normal.

Having a T at this position increases the risk of heart disease. Approximate 27% of people carry this risky form.


[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.


[PMID 19885677OA-icon.png] The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies.