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rs281865033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865033(-;-)
Make rs281865033(-;C)
Make rs281865033(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760133
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865033
ebirs281865033
HLIrs281865033
Exacrs281865033
Varsomers281865033
Maprs281865033
PheGenIrs281865033
hapmaprs281865033
1000 genomesrs281865033
hgdprs281865033
ensemblrs281865033
gopubmedrs281865033
geneviewrs281865033
scholarrs281865033
googlers281865033
pharmgkbrs281865033
gwascentralrs281865033
openSNPrs281865033
23andMers281865033
23andMe allrs281865033
SNP Nexus

SNPshotrs281865033
SNPdbers281865033
MSV3drs281865033
GWAS Ctlgrs281865033
Max Magnitude0
ClinVar
Risk rs281865033(C;C)
Alt rs281865033(C;C)
Reference rs281865033(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153911_102153912insG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031978.2,


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