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rs371549948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371549948(A;A)
Make rs371549948(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position39684715
GenePGAP3
is asnp
is mentioned by
dbSNPrs371549948
ebirs371549948
HLIrs371549948
Exacrs371549948
Varsomers371549948
Maprs371549948
PheGenIrs371549948
hapmaprs371549948
1000 genomesrs371549948
hgdprs371549948
ensemblrs371549948
gopubmedrs371549948
geneviewrs371549948
scholarrs371549948
googlers371549948
pharmgkbrs371549948
gwascentralrs371549948
openSNPrs371549948
23andMers371549948
23andMe allrs371549948
SNP Nexus

SNPshotrs371549948
SNPdbers371549948
MSV3drs371549948
GWAS Ctlgrs371549948
Max Magnitude0
ClinVar
Risk rs371549948(A,C;A,C)
Alt rs371549948(A,C;A,C)
Reference rs371549948(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.37840968G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000111465.3,