Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514466(G;G)
Make rs397514466(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position59215856
GenePDE4D
is asnp
is mentioned by
dbSNPrs397514466
ebirs397514466
HLIrs397514466
Exacrs397514466
Varsomers397514466
Maprs397514466
PheGenIrs397514466
hapmaprs397514466
1000 genomesrs397514466
hgdprs397514466
ensemblrs397514466
gopubmedrs397514466
geneviewrs397514466
scholarrs397514466
googlers397514466
pharmgkbrs397514466
gwascentralrs397514466
openSNPrs397514466
23andMers397514466
23andMe allrs397514466
SNP Nexus

SNPshotrs397514466
SNPdbers397514466
MSV3drs397514466
GWAS Ctlgrs397514466
Max Magnitude0
ClinVar
Risk rs397514466(G;G)
Alt rs397514466(G;G)
Reference rs397514466(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.58511682A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022937.3,