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rs397514469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514469(A;A)
Make rs397514469(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position58975076
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514469
ebirs397514469
HLIrs397514469
Exacrs397514469
Varsomers397514469
Maprs397514469
PheGenIrs397514469
hapmaprs397514469
1000 genomesrs397514469
hgdprs397514469
ensemblrs397514469
gopubmedrs397514469
geneviewrs397514469
scholarrs397514469
googlers397514469
pharmgkbrs397514469
gwascentralrs397514469
openSNPrs397514469
23andMers397514469
23andMe allrs397514469
SNP Nexus

SNPshotrs397514469
SNPdbers397514469
MSV3drs397514469
GWAS Ctlgrs397514469
Max Magnitude0
ClinVar
Risk rs397514469(A;A)
Alt rs397514469(A;A)
Reference rs397514469(G;G)
Significance Pathogenic
Disease Acrodysostosis 2
Variation info
Gene PDE4D
CLNDBN Acrodysostosis 2, with or without hormone resistance
Reversed 1
HGVS NC_000005.9:g.58270903C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022941.5,