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rs879255233

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255233(C;C)
Make rs879255233(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position3824097
GenePGAP2
is asnp
is mentioned by
dbSNPrs879255233
ebirs879255233
HLIrs879255233
Exacrs879255233
Varsomers879255233
Maprs879255233
PheGenIrs879255233
hapmaprs879255233
1000 genomesrs879255233
hgdprs879255233
ensemblrs879255233
gopubmedrs879255233
geneviewrs879255233
scholarrs879255233
googlers879255233
pharmgkbrs879255233
gwascentralrs879255233
openSNPrs879255233
23andMers879255233
23andMe allrs879255233
SNP Nexus

SNPshotrs879255233
SNPdbers879255233
MSV3drs879255233
GWAS Ctlgrs879255233
Max Magnitude0
ClinVar
Risk rs879255233(C;C)
Alt rs879255233(C;C)
Reference rs879255233(T;T)
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.3845327T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043537.3,