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rs281865007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865007(A;G)
Make rs281865007(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761209
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865007
ebirs281865007
HLIrs281865007
Exacrs281865007
Varsomers281865007
Maprs281865007
PheGenIrs281865007
hapmaprs281865007
1000 genomesrs281865007
hgdprs281865007
ensemblrs281865007
gopubmedrs281865007
geneviewrs281865007
scholarrs281865007
googlers281865007
pharmgkbrs281865007
gwascentralrs281865007
openSNPrs281865007
23andMers281865007
23andMe allrs281865007
SNP Nexus

SNPshotrs281865007
SNPdbers281865007
MSV3drs281865007
GWAS Ctlgrs281865007
Max Magnitude0
ClinVar
Risk rs281865007(G;G)
Alt rs281865007(G;G)
Reference rs281865007(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102154987T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034157.2,


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