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rs869312815

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312815(-;-)
Make rs869312815(-;C)
Make rs869312815(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39674672
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312815
ebirs869312815
HLIrs869312815
Exacrs869312815
Varsomers869312815
Maprs869312815
PheGenIrs869312815
hapmaprs869312815
1000 genomesrs869312815
hgdprs869312815
ensemblrs869312815
gopubmedrs869312815
geneviewrs869312815
scholarrs869312815
googlers869312815
pharmgkbrs869312815
gwascentralrs869312815
openSNPrs869312815
23andMers869312815
23andMe allrs869312815
SNP Nexus

SNPshotrs869312815
SNPdbers869312815
MSV3drs869312815
GWAS Ctlgrs869312815
Max Magnitude0
ClinVar
Risk rs869312815(C;C)
Alt rs869312815(C;C)
Reference rs869312815(;)
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.37830926dupG
CLNSRC
CLNACC RCV000210253.1,