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rs587777251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777251(C;T)
Make rs587777251(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position39685926
GenePGAP3
is asnp
is mentioned by
dbSNPrs587777251
ebirs587777251
HLIrs587777251
Exacrs587777251
Varsomers587777251
Maprs587777251
PheGenIrs587777251
hapmaprs587777251
1000 genomesrs587777251
hgdprs587777251
ensemblrs587777251
gopubmedrs587777251
geneviewrs587777251
scholarrs587777251
googlers587777251
pharmgkbrs587777251
gwascentralrs587777251
openSNPrs587777251
23andMers587777251
23andMe allrs587777251
SNP Nexus

SNPshotrs587777251
SNPdbers587777251
MSV3drs587777251
GWAS Ctlgrs587777251
Max Magnitude0
ClinVar
Risk rs587777251(C,T;C,T)
Alt rs587777251(C,T;C,T)
Reference rs587777251(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 4
Variation info
Gene ERBB2 PGAP3
CLNDBN Hyperphosphatasia with mental retardation syndrome 4
Reversed 1
HGVS NC_000017.10:g.37842179C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000111462.2,