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rs267606951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606951(A;C)
Make rs267606951(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position26795188
GenePIGV
is asnp
is mentioned by
dbSNPrs267606951
ebirs267606951
HLIrs267606951
Exacrs267606951
Varsomers267606951
Maprs267606951
PheGenIrs267606951
hapmaprs267606951
1000 genomesrs267606951
hgdprs267606951
ensemblrs267606951
gopubmedrs267606951
geneviewrs267606951
scholarrs267606951
googlers267606951
pharmgkbrs267606951
gwascentralrs267606951
openSNPrs267606951
23andMers267606951
23andMe allrs267606951
SNP Nexus

SNPshotrs267606951
SNPdbers267606951
MSV3drs267606951
GWAS Ctlgrs267606951
Max Magnitude0
ClinVar
Risk rs267606951(C;C)
Alt rs267606951(C;C)
Reference rs267606951(A;A)
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.27121679A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001348.2,