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rs587776676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGTCTACAAC;GGTCTACAAC) 0 common in clinvar
Make rs587776676(GGTCTACAAC;TG)
Make rs587776676(TG;TG)
ReferenceGRCh38 38.1/142
Chromosome4
Position174518054
GeneHPGD
is asnp
is mentioned by
dbSNPrs587776676
ebirs587776676
HLIrs587776676
Exacrs587776676
Varsomers587776676
Maprs587776676
PheGenIrs587776676
hapmaprs587776676
1000 genomesrs587776676
hgdprs587776676
ensemblrs587776676
gopubmedrs587776676
geneviewrs587776676
scholarrs587776676
googlers587776676
pharmgkbrs587776676
gwascentralrs587776676
openSNPrs587776676
23andMers587776676
23andMe allrs587776676
SNP Nexus

SNPshotrs587776676
SNPdbers587776676
MSV3drs587776676
GWAS Ctlgrs587776676
Max Magnitude0
ClinVar
Risk rs587776676(TG;TG)
Alt rs587776676(TG;TG)
Reference rs587776676(GGTCTACAAC;GGTCTACAAC)
Significance Pathogenic
Disease Pachydermoperiostosis syndrome
Variation info
Gene HPGD
CLNDBN Pachydermoperiostosis syndrome
Reversed 0
HGVS NC_000004.11:g.175439205_175439214delGGTCTACAACinsTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008380.4,