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rs397515433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515433(C;T)
Make rs397515433(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position59038869
GenePDE4D
is asnp
is mentioned by
dbSNPrs397515433
ebirs397515433
HLIrs397515433
Exacrs397515433
Varsomers397515433
Maprs397515433
PheGenIrs397515433
hapmaprs397515433
1000 genomesrs397515433
hgdprs397515433
ensemblrs397515433
gopubmedrs397515433
geneviewrs397515433
scholarrs397515433
googlers397515433
pharmgkbrs397515433
gwascentralrs397515433
openSNPrs397515433
23andMers397515433
23andMe allrs397515433
SNP Nexus

SNPshotrs397515433
SNPdbers397515433
MSV3drs397515433
GWAS Ctlgrs397515433
Max Magnitude0
ClinVar
Risk rs397515433(T;T)
Alt rs397515433(T;T)
Reference rs397515433(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.58334696G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033154.5,