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rs548208942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs548208942(-;-)
Make rs548208942(-;AG)
ReferenceGRCh38 38.1/142
Chromosome4
Position174521985
GeneHPGD
is asnp
is mentioned by
dbSNPrs548208942
ebirs548208942
HLIrs548208942
Exacrs548208942
Varsomers548208942
Maprs548208942
PheGenIrs548208942
hapmaprs548208942
1000 genomesrs548208942
hgdprs548208942
ensemblrs548208942
gopubmedrs548208942
geneviewrs548208942
scholarrs548208942
googlers548208942
pharmgkbrs548208942
gwascentralrs548208942
openSNPrs548208942
23andMers548208942
23andMe allrs548208942
SNP Nexus

SNPshotrs548208942
SNPdbers548208942
MSV3drs548208942
GWAS Ctlgrs548208942
Max Magnitude0
ClinVar
Risk rs548208942(;)
Alt rs548208942(;)
Reference rs548208942(AG;AG)
Significance Pathogenic
Disease Pachydermoperiostosis syndrome
Variation info
Gene HPGD
CLNDBN Pachydermoperiostosis syndrome
Reversed 0
HGVS NC_000004.11:g.175443136_175443137delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008381.4,