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rs869312816

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312816(C;C)
Make rs869312816(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39674039
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312816
ebirs869312816
HLIrs869312816
Exacrs869312816
Varsomers869312816
Maprs869312816
PheGenIrs869312816
hapmaprs869312816
1000 genomesrs869312816
hgdprs869312816
ensemblrs869312816
gopubmedrs869312816
geneviewrs869312816
scholarrs869312816
googlers869312816
pharmgkbrs869312816
gwascentralrs869312816
openSNPrs869312816
23andMers869312816
23andMe allrs869312816
SNP Nexus

SNPshotrs869312816
SNPdbers869312816
MSV3drs869312816
GWAS Ctlgrs869312816
Max Magnitude0
ClinVar
Risk rs869312816(C;C)
Alt rs869312816(C;C)
Reference rs869312816(T;T)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 4
Variation info
Gene PGAP3
CLNDBN Hyperphosphatasia with mental retardation syndrome 4
Reversed 1
HGVS NC_000017.10:g.37830292A>G
CLNSRC
CLNACC RCV000210271.1,