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rs113068438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113068438(A;G)
Make rs113068438(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position62475514
GeneGATA5
is asnp
is mentioned by
dbSNPrs113068438
dbSNP (old)rs113068438
ClinGenrs113068438
ebirs113068438
HLIrs113068438
Exacrs113068438
Gnomadrs113068438
Varsomers113068438
Maprs113068438
PheGenIrs113068438
Biobankrs113068438
1000 genomesrs113068438
hgdprs113068438
ensemblrs113068438
gopubmedrs113068438
geneviewrs113068438
scholarrs113068438
googlers113068438
pharmgkbrs113068438
gwascentralrs113068438
openSNPrs113068438
23andMers113068438
23andMe allrs113068438
SNP Nexus

SNPshotrs113068438
SNPdbers113068438
MSV3drs113068438
GWAS Ctlgrs113068438
Max Magnitude0

[PMID 24922888] 95 Identification Of Likely Pathogenic Variants In Patients With Bicuspid Aortic Valve: Correlation Of Complex Genotype With A More Severe Aortic Phenotype

ClinVar
Risk rs113068438(G;G)
Alt rs113068438(G;G)
Reference Rs113068438(A;A)
Significance Probable-non-pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene GATA5
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000020.10:g.61050570T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000157239.1,