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rs281865031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865031(A;A)
Make rs281865031(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764201
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865031
ebirs281865031
HLIrs281865031
Exacrs281865031
Varsomers281865031
Maprs281865031
PheGenIrs281865031
hapmaprs281865031
1000 genomesrs281865031
hgdprs281865031
ensemblrs281865031
gopubmedrs281865031
geneviewrs281865031
scholarrs281865031
googlers281865031
pharmgkbrs281865031
gwascentralrs281865031
openSNPrs281865031
23andMers281865031
23andMe allrs281865031
SNP Nexus

SNPshotrs281865031
SNPdbers281865031
MSV3drs281865031
GWAS Ctlgrs281865031
Max Magnitude0
ClinVar
Risk rs281865031(A;A)
Alt rs281865031(A;A)
Reference rs281865031(G;G)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102157979C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000031976.5,


[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.