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rs869312812

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312812(-;-)
Make rs869312812(-;C)
Make rs869312812(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position39684626
GenePGAP3
is asnp
is mentioned by
dbSNPrs869312812
ebirs869312812
HLIrs869312812
Exacrs869312812
Varsomers869312812
Maprs869312812
PheGenIrs869312812
hapmaprs869312812
1000 genomesrs869312812
hgdprs869312812
ensemblrs869312812
gopubmedrs869312812
geneviewrs869312812
scholarrs869312812
googlers869312812
pharmgkbrs869312812
gwascentralrs869312812
openSNPrs869312812
23andMers869312812
23andMe allrs869312812
SNP Nexus

SNPshotrs869312812
SNPdbers869312812
MSV3drs869312812
GWAS Ctlgrs869312812
Max Magnitude0
ClinVar
Risk rs869312812(C;C)
Alt rs869312812(C;C)
Reference rs869312812(;)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 4
Variation info
Gene PGAP3
CLNDBN Hyperphosphatasia with mental retardation syndrome 4
Reversed 1
HGVS NC_000017.10:g.37840880dupG
CLNSRC
CLNACC RCV000210252.1,