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rs869312813

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312813(G;T)
Make rs869312813(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39673089
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312813
ebirs869312813
HLIrs869312813
Exacrs869312813
Varsomers869312813
Maprs869312813
PheGenIrs869312813
hapmaprs869312813
1000 genomesrs869312813
hgdprs869312813
ensemblrs869312813
gopubmedrs869312813
geneviewrs869312813
scholarrs869312813
googlers869312813
pharmgkbrs869312813
gwascentralrs869312813
openSNPrs869312813
23andMers869312813
23andMe allrs869312813
SNP Nexus

SNPshotrs869312813
SNPdbers869312813
MSV3drs869312813
GWAS Ctlgrs869312813
Max Magnitude0
ClinVar
Risk rs869312813(T;T)
Alt rs869312813(T;T)
Reference rs869312813(G;G)
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.37829342C>A
CLNSRC
CLNACC RCV000210266.1,