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rs121434480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434480(C;C)
Make rs121434480(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position174508699
GeneHPGD
is asnp
is mentioned by
dbSNPrs121434480
ebirs121434480
HLIrs121434480
Exacrs121434480
Varsomers121434480
Maprs121434480
PheGenIrs121434480
hapmaprs121434480
1000 genomesrs121434480
hgdprs121434480
ensemblrs121434480
gopubmedrs121434480
geneviewrs121434480
scholarrs121434480
googlers121434480
pharmgkbrs121434480
gwascentralrs121434480
openSNPrs121434480
23andMers121434480
23andMe allrs121434480
SNP Nexus

SNPshotrs121434480
SNPdbers121434480
MSV3drs121434480
GWAS Ctlgrs121434480
Max Magnitude0
OMIM601688
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434480(C;C)
Alt rs121434480(C;C)
Reference rs121434480(G;G)
Significance Pathogenic
Disease Cranioosteoarthropathy Pachydermoperiostosis syndrome
Variation info
Gene HPGD
CLNDBN Cranioosteoarthropathy Pachydermoperiostosis syndrome
Reversed 1
HGVS NC_000004.11:g.175429850C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008379.5, RCV000144084.2,