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rs397514464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514464(A;A)
Make rs397514464(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position59193511
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514464
ebirs397514464
HLIrs397514464
Exacrs397514464
Varsomers397514464
Maprs397514464
PheGenIrs397514464
hapmaprs397514464
1000 genomesrs397514464
hgdprs397514464
ensemblrs397514464
gopubmedrs397514464
geneviewrs397514464
scholarrs397514464
googlers397514464
pharmgkbrs397514464
gwascentralrs397514464
openSNPrs397514464
23andMers397514464
23andMe allrs397514464
SNP Nexus

SNPshotrs397514464
SNPdbers397514464
MSV3drs397514464
GWAS Ctlgrs397514464
Max Magnitude0
ClinVar
Risk rs397514464(A;A)
Alt rs397514464(A;A)
Reference rs397514464(C;C)
Significance Pathogenic
Disease Acrodysostosis 2
Variation info
Gene PDE4D
CLNDBN Acrodysostosis 2, with or without hormone resistance
Reversed 1
HGVS NC_000005.9:g.58489337G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022935.3,