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rs281865010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865010(C;G)
Make rs281865010(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760119
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865010
ebirs281865010
HLIrs281865010
Exacrs281865010
Varsomers281865010
Maprs281865010
PheGenIrs281865010
hapmaprs281865010
1000 genomesrs281865010
hgdprs281865010
ensemblrs281865010
gopubmedrs281865010
geneviewrs281865010
scholarrs281865010
googlers281865010
pharmgkbrs281865010
gwascentralrs281865010
openSNPrs281865010
23andMers281865010
23andMe allrs281865010
SNP Nexus

SNPshotrs281865010
SNPdbers281865010
MSV3drs281865010
GWAS Ctlgrs281865010
Max Magnitude0
ClinVar
Risk rs281865010(G;G)
Alt rs281865010(G;G)
Reference rs281865010(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153897G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032331.1,


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