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rs869025323

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025323(A;A)
Make rs869025323(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position88523797
GeneLOC101929134, PIGY, PYURF
is asnp
is mentioned by
dbSNPrs869025323
ebirs869025323
HLIrs869025323
Exacrs869025323
Varsomers869025323
Maprs869025323
PheGenIrs869025323
hapmaprs869025323
1000 genomesrs869025323
hgdprs869025323
ensemblrs869025323
gopubmedrs869025323
geneviewrs869025323
scholarrs869025323
googlers869025323
pharmgkbrs869025323
gwascentralrs869025323
openSNPrs869025323
23andMers869025323
23andMe allrs869025323
SNP Nexus

SNPshotrs869025323
SNPdbers869025323
MSV3drs869025323
GWAS Ctlgrs869025323
Max Magnitude0
ClinVar
Risk rs869025323(A;A)
Alt rs869025323(A;A)
Reference rs869025323(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 6
Variation info
Gene PIGY PYURF LOC101929134
CLNDBN Hyperphosphatasia with mental retardation syndrome 6
Reversed 1
HGVS NC_000004.11:g.89444948C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207473.1,