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rs281864954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs281864954(-;-)
Make rs281864954(-;CA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101788570
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864954
ebirs281864954
HLIrs281864954
Exacrs281864954
Varsomers281864954
Maprs281864954
PheGenIrs281864954
hapmaprs281864954
1000 genomesrs281864954
hgdprs281864954
ensemblrs281864954
gopubmedrs281864954
geneviewrs281864954
scholarrs281864954
googlers281864954
pharmgkbrs281864954
gwascentralrs281864954
openSNPrs281864954
23andMers281864954
23andMe allrs281864954
SNP Nexus

SNPshotrs281864954
SNPdbers281864954
MSV3drs281864954
GWAS Ctlgrs281864954
Max Magnitude0
ClinVar
Risk rs281864954(;)
Alt rs281864954(;)
Reference rs281864954(CA;CA)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102182348_102182349delTG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032339.1,


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