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rs397514465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514465(C;C)
Make rs397514465(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position59193507
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514465
ebirs397514465
HLIrs397514465
Exacrs397514465
Varsomers397514465
Maprs397514465
PheGenIrs397514465
hapmaprs397514465
1000 genomesrs397514465
hgdprs397514465
ensemblrs397514465
gopubmedrs397514465
geneviewrs397514465
scholarrs397514465
googlers397514465
pharmgkbrs397514465
gwascentralrs397514465
openSNPrs397514465
23andMers397514465
23andMe allrs397514465
SNP Nexus

SNPshotrs397514465
SNPdbers397514465
MSV3drs397514465
GWAS Ctlgrs397514465
Max Magnitude0
ClinVar
Risk rs397514465(C,G;C,G)
Alt rs397514465(C,G;C,G)
Reference rs397514465(T;T)
Significance Pathogenic
Disease Acrodysostosis 2
Variation info
Gene PDE4D
CLNDBN Acrodysostosis 2, with or without hormone resistance
Reversed 1
HGVS NC_000005.9:g.58489333A>C; NC_000005.9:g.58489333A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087310.3, RCV000022936.3,