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rs397514467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514467(A;C)
Make rs397514467(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position58976421
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514467
ebirs397514467
HLIrs397514467
Exacrs397514467
Varsomers397514467
Maprs397514467
PheGenIrs397514467
hapmaprs397514467
1000 genomesrs397514467
hgdprs397514467
ensemblrs397514467
gopubmedrs397514467
geneviewrs397514467
scholarrs397514467
googlers397514467
pharmgkbrs397514467
gwascentralrs397514467
openSNPrs397514467
23andMers397514467
23andMe allrs397514467
SNP Nexus

SNPshotrs397514467
SNPdbers397514467
MSV3drs397514467
GWAS Ctlgrs397514467
Max Magnitude0
ClinVar
Risk rs397514467(C;C)
Alt rs397514467(C;C)
Reference rs397514467(A;A)
Significance Pathogenic
Disease Acrodysostosis 2
Variation info
Gene PDE4D
CLNDBN Acrodysostosis 2, with or without hormone resistance
Reversed 1
HGVS NC_000005.9:g.58272248T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022938.3,