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rs183208638

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs183208638(A;A)
Make rs183208638(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39672244
GenePGAP3
is asnp
is mentioned by
dbSNPrs183208638
ebirs183208638
HLIrs183208638
Exacrs183208638
Varsomers183208638
Maprs183208638
PheGenIrs183208638
hapmaprs183208638
1000 genomesrs183208638
hgdprs183208638
ensemblrs183208638
gopubmedrs183208638
geneviewrs183208638
scholarrs183208638
googlers183208638
pharmgkbrs183208638
gwascentralrs183208638
openSNPrs183208638
23andMers183208638
23andMe allrs183208638
SNP Nexus

SNPshotrs183208638
SNPdbers183208638
MSV3drs183208638
GWAS Ctlgrs183208638
Max Magnitude0
ClinVar
Risk rs183208638(A;A)
Alt rs183208638(A;A)
Reference rs183208638(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 4
Variation info
Gene PGAP3
CLNDBN Hyperphosphatasia with mental retardation syndrome 4
Reversed 0
HGVS NC_000017.10:g.37828497G>A
CLNSRC
CLNACC RCV000210275.1,