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rs869312817

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312817(C;C)
Make rs869312817(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39673108
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312817
ebirs869312817
HLIrs869312817
Exacrs869312817
Varsomers869312817
Maprs869312817
PheGenIrs869312817
hapmaprs869312817
1000 genomesrs869312817
hgdprs869312817
ensemblrs869312817
gopubmedrs869312817
geneviewrs869312817
scholarrs869312817
googlers869312817
pharmgkbrs869312817
gwascentralrs869312817
openSNPrs869312817
23andMers869312817
23andMe allrs869312817
SNP Nexus

SNPshotrs869312817
SNPdbers869312817
MSV3drs869312817
GWAS Ctlgrs869312817
Max Magnitude0
ClinVar
Risk rs869312817(C;C)
Alt rs869312817(C;C)
Reference rs869312817(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.37829361A>G
CLNSRC
CLNACC RCV000210284.1,