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rs281864999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864999(-;-)
Make rs281864999(-;A)
Make rs281864999(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764223
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864999
ebirs281864999
HLIrs281864999
Exacrs281864999
Varsomers281864999
Maprs281864999
PheGenIrs281864999
hapmaprs281864999
1000 genomesrs281864999
hgdprs281864999
ensemblrs281864999
gopubmedrs281864999
geneviewrs281864999
scholarrs281864999
googlers281864999
pharmgkbrs281864999
gwascentralrs281864999
openSNPrs281864999
23andMers281864999
23andMe allrs281864999
SNP Nexus

SNPshotrs281864999
SNPdbers281864999
MSV3drs281864999
GWAS Ctlgrs281864999
Max Magnitude0
ClinVar
Risk rs281864999(A;A)
Alt rs281864999(A;A)
Reference rs281864999(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158002dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032322.1,


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