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rs387907023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907023(A;A)
Make rs387907023(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position26794501
GenePIGV
is asnp
is mentioned by
dbSNPrs387907023
ebirs387907023
HLIrs387907023
Exacrs387907023
Varsomers387907023
Maprs387907023
PheGenIrs387907023
hapmaprs387907023
1000 genomesrs387907023
hgdprs387907023
ensemblrs387907023
gopubmedrs387907023
geneviewrs387907023
scholarrs387907023
googlers387907023
pharmgkbrs387907023
gwascentralrs387907023
openSNPrs387907023
23andMers387907023
23andMe allrs387907023
SNP Nexus

SNPshotrs387907023
SNPdbers387907023
MSV3drs387907023
GWAS Ctlgrs387907023
Max Magnitude0
ClinVar
Risk rs387907023(A;A)
Alt rs387907023(A;A)
Reference rs387907023(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 1
Variation info
Gene PIGV
CLNDBN Hyperphosphatasia with mental retardation syndrome 1
Reversed 0
HGVS NC_000001.10:g.27120992G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023806.2,