Rs3803

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Orientationplus
Geno Mag Summary
(G;G) 0
Make rs3803(C;C)
Make rs3803(C;T)
Make rs3803(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position128480537
GeneGATA2
is asnp
is mentioned by
dbSNPrs3803
Exacrs3803
PheGenIrs3803
nextbiors3803
hapmaprs3803
1000 genomesrs3803
hgdprs3803
ensemblrs3803
gopubmedrs3803
geneviewrs3803
scholarrs3803
googlers3803
pharmgkbrs3803
gwascentralrs3803
openSNPrs3803
23andMers3803
23andMe allrs3803
SNP Nexus

SNPshotrs3803
SNPdbers3803
MSV3drs3803
GMAF0.1405
Max Magnitude0
? (C;C) (C;T) (T;T) 28
This paper implicates this snp as playing a role in heart disease.

Having a G at this position is considered normal.

Having an A at this position reduces the risk of heart disease. Approximate 15% of all people carry this allele.

Technical note: This applies to many other snps, but here is the first clean case I've encountered.

dbsnp shows ss3839 and ss16241517 are being read 'fwd' ss16940640 and ss44449258 are being read in 'rev'.

This has C/T alleles when read forward, and A/G when read in reverse. Since the authors of the paper above describe this as an A/G snp, it seems they are reading in reverse. Often papers include even less information, and can leave some ambiguity about these important details.


[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 24782050] Gene polymorphisms associated with susceptibility to coronary artery disease in Han Chinese people