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rs137852895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852895(A;G)
Make rs137852895(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770085
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852895
ebirs137852895
HLIrs137852895
Exacrs137852895
Varsomers137852895
Maprs137852895
PheGenIrs137852895
hapmaprs137852895
1000 genomesrs137852895
hgdprs137852895
ensemblrs137852895
gopubmedrs137852895
geneviewrs137852895
scholarrs137852895
googlers137852895
pharmgkbrs137852895
gwascentralrs137852895
openSNPrs137852895
23andMers137852895
23andMe allrs137852895
SNP Nexus

SNPshotrs137852895
SNPdbers137852895
MSV3drs137852895
GWAS Ctlgrs137852895
Max Magnitude0
OMIM607840
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852895(C,G;C,G)
Alt rs137852895(C,G;C,G)
Reference rs137852895(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102163863T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002889.4,


[PMID 16094673] Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.