Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864949(-;-)
Make rs281864949(-;T)
Make rs281864949(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796716
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864949
ebirs281864949
HLIrs281864949
Exacrs281864949
Varsomers281864949
Maprs281864949
PheGenIrs281864949
hapmaprs281864949
1000 genomesrs281864949
hgdprs281864949
ensemblrs281864949
gopubmedrs281864949
geneviewrs281864949
scholarrs281864949
googlers281864949
pharmgkbrs281864949
gwascentralrs281864949
openSNPrs281864949
23andMers281864949
23andMe allrs281864949
SNP Nexus

SNPshotrs281864949
SNPdbers281864949
MSV3drs281864949
GWAS Ctlgrs281864949
Max Magnitude0
ClinVar
Risk rs281864949(T;T)
Alt rs281864949(T;T)
Reference rs281864949(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102190495dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032302.1,


[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.