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rs281865035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865035(-;-)
Make rs281865035(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757655
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865035
ebirs281865035
HLIrs281865035
Exacrs281865035
Varsomers281865035
Maprs281865035
PheGenIrs281865035
hapmaprs281865035
1000 genomesrs281865035
hgdprs281865035
ensemblrs281865035
gopubmedrs281865035
geneviewrs281865035
scholarrs281865035
googlers281865035
pharmgkbrs281865035
gwascentralrs281865035
openSNPrs281865035
23andMers281865035
23andMe allrs281865035
SNP Nexus

SNPshotrs281865035
SNPdbers281865035
MSV3drs281865035
GWAS Ctlgrs281865035
Max Magnitude0
ClinVar
Risk rs281865035(;)
Alt rs281865035(;)
Reference rs281865035(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151433delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031981.2,


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