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rs200024253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200024253(A;G)
Make rs200024253(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position36537600
GenePIGW
is asnp
is mentioned by
dbSNPrs200024253
ebirs200024253
HLIrs200024253
Exacrs200024253
Varsomers200024253
Maprs200024253
PheGenIrs200024253
hapmaprs200024253
1000 genomesrs200024253
hgdprs200024253
ensemblrs200024253
gopubmedrs200024253
geneviewrs200024253
scholarrs200024253
googlers200024253
pharmgkbrs200024253
gwascentralrs200024253
openSNPrs200024253
23andMers200024253
23andMe allrs200024253
SNP Nexus

SNPshotrs200024253
SNPdbers200024253
MSV3drs200024253
GWAS Ctlgrs200024253
Max Magnitude0
ClinVar
Risk rs200024253(G;G)
Alt rs200024253(G;G)
Reference rs200024253(A;A)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 5
Variation info
Gene PIGW
CLNDBN Hyperphosphatasia with mental retardation syndrome 5
Reversed 0
HGVS NC_000017.10:g.34893449A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144175.4,