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rs142164373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142164373(A;A)
Make rs142164373(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35090266
GenePIGO
is asnp
is mentioned by
dbSNPrs142164373
dbSNP (classic)rs142164373
ClinGenrs142164373
ebirs142164373
HLIrs142164373
Exacrs142164373
Gnomadrs142164373
Varsomers142164373
LitVarrs142164373
Maprs142164373
PheGenIrs142164373
Biobankrs142164373
1000 genomesrs142164373
hgdprs142164373
ensemblrs142164373
geneviewrs142164373
scholarrs142164373
googlers142164373
pharmgkbrs142164373
gwascentralrs142164373
openSNPrs142164373
23andMers142164373
SNPshotrs142164373
SNPdbers142164373
MSV3drs142164373
GWAS Ctlgrs142164373
Max Magnitude0
ClinVar
Risk rs142164373(A;A)
Alt rs142164373(A;A)
Reference Rs142164373(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 2
Variation info
Gene PIGO
CLNDBN Hyperphosphatasia with mental retardation syndrome 2
Reversed 0
HGVS NC_000009.11:g.35090263G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000029245.3,