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rs281865027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865027(-;-)
Make rs281865027(-;C)
Make rs281865027(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101765291
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865027
ebirs281865027
HLIrs281865027
Exacrs281865027
Varsomers281865027
Maprs281865027
PheGenIrs281865027
hapmaprs281865027
1000 genomesrs281865027
hgdprs281865027
ensemblrs281865027
gopubmedrs281865027
geneviewrs281865027
scholarrs281865027
googlers281865027
pharmgkbrs281865027
gwascentralrs281865027
openSNPrs281865027
23andMers281865027
23andMe allrs281865027
SNP Nexus

SNPshotrs281865027
SNPdbers281865027
MSV3drs281865027
GWAS Ctlgrs281865027
Max Magnitude0
ClinVar
Risk rs281865027(C;C)
Alt rs281865027(C;C)
Reference rs281865027(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102159069_102159070insG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002898.4,


[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.