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rs267606952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606952(A;A)
Make rs267606952(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position26794800
GenePIGV
is asnp
is mentioned by
dbSNPrs267606952
ebirs267606952
HLIrs267606952
Exacrs267606952
Varsomers267606952
Maprs267606952
PheGenIrs267606952
hapmaprs267606952
1000 genomesrs267606952
hgdprs267606952
ensemblrs267606952
gopubmedrs267606952
geneviewrs267606952
scholarrs267606952
googlers267606952
pharmgkbrs267606952
gwascentralrs267606952
openSNPrs267606952
23andMers267606952
23andMe allrs267606952
SNP Nexus

SNPshotrs267606952
SNPdbers267606952
MSV3drs267606952
GWAS Ctlgrs267606952
Max Magnitude0
ClinVar
Risk rs267606952(A;A)
Alt rs267606952(A;A)
Reference rs267606952(C;C)
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.27121291C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001349.3,