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rs587777188

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777188(A;G)
Make rs587777188(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position58975061
GenePDE4D
is asnp
is mentioned by
dbSNPrs587777188
dbSNP (classic)rs587777188
ClinGenrs587777188
ebirs587777188
HLIrs587777188
Exacrs587777188
Gnomadrs587777188
Varsomers587777188
LitVarrs587777188
Maprs587777188
PheGenIrs587777188
Biobankrs587777188
1000 genomesrs587777188
hgdprs587777188
ensemblrs587777188
geneviewrs587777188
scholarrs587777188
googlers587777188
pharmgkbrs587777188
gwascentralrs587777188
openSNPrs587777188
23andMers587777188
SNPshotrs587777188
SNPdbers587777188
MSV3drs587777188
GWAS Ctlgrs587777188
Max Magnitude0
ClinVar
Risk Rs587777188(A;A) rs587777188(G;G)
Alt Rs587777188(A;A) rs587777188(G;G)
Reference Rs587777188(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.58270888A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087311.3,