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rs587777719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587777719(-;-)
Make rs587777719(-;AG)
ReferenceGRCh38 38.1/142
Chromosome4
Position174517984
GeneHPGD
is asnp
is mentioned by
dbSNPrs587777719
ebirs587777719
HLIrs587777719
Exacrs587777719
Varsomers587777719
Maprs587777719
PheGenIrs587777719
hapmaprs587777719
1000 genomesrs587777719
hgdprs587777719
ensemblrs587777719
gopubmedrs587777719
geneviewrs587777719
scholarrs587777719
googlers587777719
pharmgkbrs587777719
gwascentralrs587777719
openSNPrs587777719
23andMers587777719
23andMe allrs587777719
SNP Nexus

SNPshotrs587777719
SNPdbers587777719
MSV3drs587777719
GWAS Ctlgrs587777719
Max Magnitude0
ClinVar
Risk rs587777719(;)
Alt rs587777719(;)
Reference rs587777719(AG;AG)
Significance Pathogenic
Disease Pachydermoperiostosis syndrome
Variation info
Gene HPGD
CLNDBN Pachydermoperiostosis syndrome
Reversed 0
HGVS NC_000004.11:g.175439135_175439136delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144086.3,