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rs281864997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864997(-;-)
Make rs281864997(-;G)
Make rs281864997(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764325
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864997
ebirs281864997
HLIrs281864997
Exacrs281864997
Varsomers281864997
Maprs281864997
PheGenIrs281864997
hapmaprs281864997
1000 genomesrs281864997
hgdprs281864997
ensemblrs281864997
gopubmedrs281864997
geneviewrs281864997
scholarrs281864997
googlers281864997
pharmgkbrs281864997
gwascentralrs281864997
openSNPrs281864997
23andMers281864997
23andMe allrs281864997
SNP Nexus

SNPshotrs281864997
SNPdbers281864997
MSV3drs281864997
GWAS Ctlgrs281864997
Max Magnitude0
ClinVar
Risk rs281864997(G;G)
Alt rs281864997(G;G)
Reference rs281864997(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158103_102158104insC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034156.2,


[PMID 19617216OA-icon.png] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.