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rs281864948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864948(-;-)
Make rs281864948(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796759
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864948
ebirs281864948
HLIrs281864948
Exacrs281864948
Varsomers281864948
Maprs281864948
PheGenIrs281864948
hapmaprs281864948
1000 genomesrs281864948
hgdprs281864948
ensemblrs281864948
gopubmedrs281864948
geneviewrs281864948
scholarrs281864948
googlers281864948
pharmgkbrs281864948
gwascentralrs281864948
openSNPrs281864948
23andMers281864948
23andMe allrs281864948
SNP Nexus

SNPshotrs281864948
SNPdbers281864948
MSV3drs281864948
GWAS Ctlgrs281864948
Max Magnitude0
ClinVar
Risk rs281864948(;)
Alt rs281864948(;)
Reference rs281864948(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102190537delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032292.1,


[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.