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rs281864969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864969(C;T)
Make rs281864969(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770519
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864969
ebirs281864969
HLIrs281864969
Exacrs281864969
Varsomers281864969
Maprs281864969
PheGenIrs281864969
hapmaprs281864969
1000 genomesrs281864969
hgdprs281864969
ensemblrs281864969
gopubmedrs281864969
geneviewrs281864969
scholarrs281864969
googlers281864969
pharmgkbrs281864969
gwascentralrs281864969
openSNPrs281864969
23andMers281864969
23andMe allrs281864969
SNP Nexus

SNPshotrs281864969
SNPdbers281864969
MSV3drs281864969
GWAS Ctlgrs281864969
Max Magnitude0
ClinVar
Risk rs281864969(T;T)
Alt rs281864969(T;T)
Reference rs281864969(C;C)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy not provided I cell disease
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy not provided I cell disease
Reversed 1
HGVS NC_000012.11:g.102164297G>A
CLNSRC HGMD
CLNACC RCV000032282.1, RCV000082184.3, RCV000180686.1,


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