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rs376328153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376328153(A;A)
Make rs376328153(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position26794528
GenePIGV
is asnp
is mentioned by
dbSNPrs376328153
ebirs376328153
HLIrs376328153
Exacrs376328153
Varsomers376328153
Maprs376328153
PheGenIrs376328153
hapmaprs376328153
1000 genomesrs376328153
hgdprs376328153
ensemblrs376328153
gopubmedrs376328153
geneviewrs376328153
scholarrs376328153
googlers376328153
pharmgkbrs376328153
gwascentralrs376328153
openSNPrs376328153
23andMers376328153
23andMe allrs376328153
SNP Nexus

SNPshotrs376328153
SNPdbers376328153
MSV3drs376328153
GWAS Ctlgrs376328153
Max Magnitude0
ClinVar
Risk rs376328153(A;A)
Alt rs376328153(A;A)
Reference rs376328153(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.27121019C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000122740.2,