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rs139073416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139073416(A;A)
Make rs139073416(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position26795056
GenePIGV
is asnp
is mentioned by
dbSNPrs139073416
ebirs139073416
HLIrs139073416
Exacrs139073416
Varsomers139073416
Maprs139073416
PheGenIrs139073416
hapmaprs139073416
1000 genomesrs139073416
hgdprs139073416
ensemblrs139073416
gopubmedrs139073416
geneviewrs139073416
scholarrs139073416
googlers139073416
pharmgkbrs139073416
gwascentralrs139073416
openSNPrs139073416
23andMers139073416
23andMe allrs139073416
SNP Nexus

SNPshotrs139073416
SNPdbers139073416
MSV3drs139073416
GWAS Ctlgrs139073416
Max Magnitude0
ClinVar
Risk rs139073416(A,T;A,T)
Alt rs139073416(A,T;A,T)
Reference rs139073416(C;C)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 1 Inborn genetic diseases
Variation info
Gene PIGV
CLNDBN Hyperphosphatasia with mental retardation syndrome 1 Inborn genetic diseases
Reversed 0
HGVS NC_000001.10:g.27121547C>A; NC_000001.10:g.27121547C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001347.3, RCV000190698.1, RCV000001350.2,