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rs587776970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776970(C;T)
Make rs587776970(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position3824025
GenePGAP2
is asnp
is mentioned by
dbSNPrs587776970
ebirs587776970
HLIrs587776970
Exacrs587776970
Varsomers587776970
Maprs587776970
PheGenIrs587776970
hapmaprs587776970
1000 genomesrs587776970
hgdprs587776970
ensemblrs587776970
gopubmedrs587776970
geneviewrs587776970
scholarrs587776970
googlers587776970
pharmgkbrs587776970
gwascentralrs587776970
openSNPrs587776970
23andMers587776970
23andMe allrs587776970
SNP Nexus

SNPshotrs587776970
SNPdbers587776970
MSV3drs587776970
GWAS Ctlgrs587776970
Max Magnitude0
ClinVar
Risk rs587776970(T;T)
Alt rs587776970(T;T)
Reference rs587776970(C;C)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 3
Variation info
Gene PGAP2
CLNDBN Hyperphosphatasia with mental retardation syndrome 3
Reversed 0
HGVS NC_000011.9:g.3845255C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043539.3,