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rs397514468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514468(C;G)
Make rs397514468(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position59193502
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514468
ebirs397514468
HLIrs397514468
Exacrs397514468
Varsomers397514468
Maprs397514468
PheGenIrs397514468
hapmaprs397514468
1000 genomesrs397514468
hgdprs397514468
ensemblrs397514468
gopubmedrs397514468
geneviewrs397514468
scholarrs397514468
googlers397514468
pharmgkbrs397514468
gwascentralrs397514468
openSNPrs397514468
23andMers397514468
23andMe allrs397514468
SNP Nexus

SNPshotrs397514468
SNPdbers397514468
MSV3drs397514468
GWAS Ctlgrs397514468
Max Magnitude0
ClinVar
Risk rs397514468(G;G)
Alt rs397514468(G;G)
Reference rs397514468(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.58489328G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022939.5,