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rs202146344

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202146344(A;A)
Make rs202146344(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39684709
GenePGAP3
is asnp
is mentioned by
dbSNPrs202146344
ebirs202146344
HLIrs202146344
Exacrs202146344
Varsomers202146344
Maprs202146344
PheGenIrs202146344
hapmaprs202146344
1000 genomesrs202146344
hgdprs202146344
ensemblrs202146344
gopubmedrs202146344
geneviewrs202146344
scholarrs202146344
googlers202146344
pharmgkbrs202146344
gwascentralrs202146344
openSNPrs202146344
23andMers202146344
23andMe allrs202146344
SNP Nexus

SNPshotrs202146344
SNPdbers202146344
MSV3drs202146344
GWAS Ctlgrs202146344
Max Magnitude0
ClinVar
Risk rs202146344(A;A)
Alt rs202146344(A;A)
Reference rs202146344(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.37840962G>A
CLNSRC
CLNACC RCV000210258.1,