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rs281864955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864955(-;-)
Make rs281864955(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101786143
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864955
ebirs281864955
HLIrs281864955
Exacrs281864955
Varsomers281864955
Maprs281864955
PheGenIrs281864955
hapmaprs281864955
1000 genomesrs281864955
hgdprs281864955
ensemblrs281864955
gopubmedrs281864955
geneviewrs281864955
scholarrs281864955
googlers281864955
pharmgkbrs281864955
gwascentralrs281864955
openSNPrs281864955
23andMers281864955
23andMe allrs281864955
SNP Nexus

SNPshotrs281864955
SNPdbers281864955
MSV3drs281864955
GWAS Ctlgrs281864955
Max Magnitude0
ClinVar
Risk rs281864955(;)
Alt rs281864955(;)
Reference rs281864955(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102179921delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032346.1,


[PMID 19659762] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.