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rs869312814

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312814(A;G)
Make rs869312814(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39673105
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312814
ebirs869312814
HLIrs869312814
Exacrs869312814
Varsomers869312814
Maprs869312814
PheGenIrs869312814
hapmaprs869312814
1000 genomesrs869312814
hgdprs869312814
ensemblrs869312814
gopubmedrs869312814
geneviewrs869312814
scholarrs869312814
googlers869312814
pharmgkbrs869312814
gwascentralrs869312814
openSNPrs869312814
23andMers869312814
23andMe allrs869312814
SNP Nexus

SNPshotrs869312814
SNPdbers869312814
MSV3drs869312814
GWAS Ctlgrs869312814
Max Magnitude0
ClinVar
Risk rs869312814(G;G)
Alt rs869312814(G;G)
Reference rs869312814(A;A)
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.37829358T>C
CLNSRC
CLNACC RCV000210267.1,