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rs12476289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12476289(C;T)
Make rs12476289(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178777248
GeneTTN, ZNF787
is asnp
is mentioned by
dbSNPrs12476289
ebirs12476289
HLIrs12476289
Exacrs12476289
Varsomers12476289
Maprs12476289
PheGenIrs12476289
hapmaprs12476289
1000 genomesrs12476289
hgdprs12476289
ensemblrs12476289
gopubmedrs12476289
geneviewrs12476289
scholarrs12476289
googlers12476289
pharmgkbrs12476289
gwascentralrs12476289
openSNPrs12476289
23andMers12476289
23andMe allrs12476289
SNP Nexus

SNPshotrs12476289
SNPdbers12476289
MSV3drs12476289
GWAS Ctlgrs12476289
GMAF0.08999
Max Magnitude0
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 20031603OA-icon.png]
Trait QT interval
Title A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations: The EUROSPAN Project
Risk Allele A
P-val 0.000002
Odds Ratio 0.29 [0.17-0.41] unit increase


GET Evidence
TTN-R1572Q
aa_change Arg1572Gln
aa_change_short R1572Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0340212
summary



ClinVar
Risk rs12476289(T;T)
Alt rs12476289(T;T)
Reference rs12476289(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TTN LOC101927055
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.179641975C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000040368.5,