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rs387906744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906744(A;C)
Make rs387906744(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position58975718
GenePDE4D
is asnp
is mentioned by
dbSNPrs387906744
ebirs387906744
HLIrs387906744
Exacrs387906744
Varsomers387906744
Maprs387906744
PheGenIrs387906744
hapmaprs387906744
1000 genomesrs387906744
hgdprs387906744
ensemblrs387906744
gopubmedrs387906744
geneviewrs387906744
scholarrs387906744
googlers387906744
pharmgkbrs387906744
gwascentralrs387906744
openSNPrs387906744
23andMers387906744
23andMe allrs387906744
SNP Nexus

SNPshotrs387906744
SNPdbers387906744
MSV3drs387906744
GWAS Ctlgrs387906744
Max Magnitude0
ClinVar
Risk rs387906744(C;C)
Alt rs387906744(C;C)
Reference rs387906744(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.58271545T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022940.4,