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rs200598755

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200598755(C;T)
Make rs200598755(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39673660
GenePGAP3
is asnp
is mentioned by
dbSNPrs200598755
ebirs200598755
HLIrs200598755
Exacrs200598755
Varsomers200598755
Maprs200598755
PheGenIrs200598755
hapmaprs200598755
1000 genomesrs200598755
hgdprs200598755
ensemblrs200598755
gopubmedrs200598755
geneviewrs200598755
scholarrs200598755
googlers200598755
pharmgkbrs200598755
gwascentralrs200598755
openSNPrs200598755
23andMers200598755
23andMe allrs200598755
SNP Nexus

SNPshotrs200598755
SNPdbers200598755
MSV3drs200598755
GWAS Ctlgrs200598755
Max Magnitude0
ClinVar
Risk rs200598755(T;T)
Alt rs200598755(T;T)
Reference rs200598755(C;C)
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.37829913C>T
CLNSRC
CLNACC RCV000210276.1,