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rs281865003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865003(A;G)
Make rs281865003(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761696
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865003
ebirs281865003
HLIrs281865003
Exacrs281865003
Varsomers281865003
Maprs281865003
PheGenIrs281865003
hapmaprs281865003
1000 genomesrs281865003
hgdprs281865003
ensemblrs281865003
gopubmedrs281865003
geneviewrs281865003
scholarrs281865003
googlers281865003
pharmgkbrs281865003
gwascentralrs281865003
openSNPrs281865003
23andMers281865003
23andMe allrs281865003
SNP Nexus

SNPshotrs281865003
SNPdbers281865003
MSV3drs281865003
GWAS Ctlgrs281865003
Max Magnitude0
ClinVar
Risk rs281865003(G;G)
Alt rs281865003(G;G)
Reference rs281865003(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102155474T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032360.1,


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