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rs587777252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777252(C;C)
Make rs587777252(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position39672852
GenePGAP3
is asnp
is mentioned by
dbSNPrs587777252
dbSNP (old)rs587777252
ClinGenrs587777252
ebirs587777252
HLIrs587777252
Exacrs587777252
Gnomadrs587777252
Varsomers587777252
Maprs587777252
PheGenIrs587777252
Biobankrs587777252
1000 genomesrs587777252
hgdprs587777252
ensemblrs587777252
gopubmedrs587777252
geneviewrs587777252
scholarrs587777252
googlers587777252
pharmgkbrs587777252
gwascentralrs587777252
openSNPrs587777252
23andMers587777252
23andMe allrs587777252
SNP Nexus

SNPshotrs587777252
SNPdbers587777252
MSV3drs587777252
GWAS Ctlgrs587777252
Max Magnitude0
ClinVar
Risk rs587777252(C;C)
Alt rs587777252(C;C)
Reference Rs587777252(T;T)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 4 not provided
Variation info
Gene PGAP3
CLNDBN Hyperphosphatasia with mental retardation syndrome 4 not provided
Reversed 0
HGVS NC_000017.10:g.37829105T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000111464.3, RCV000493877.1,