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rs281865001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865001(G;G)
Make rs281865001(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764200
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865001
ebirs281865001
HLIrs281865001
Exacrs281865001
Varsomers281865001
Maprs281865001
PheGenIrs281865001
hapmaprs281865001
1000 genomesrs281865001
hgdprs281865001
ensemblrs281865001
gopubmedrs281865001
geneviewrs281865001
scholarrs281865001
googlers281865001
pharmgkbrs281865001
gwascentralrs281865001
openSNPrs281865001
23andMers281865001
23andMe allrs281865001
SNP Nexus

SNPshotrs281865001
SNPdbers281865001
MSV3drs281865001
GWAS Ctlgrs281865001
Max Magnitude0
ClinVar
Risk rs281865001(G;G)
Alt rs281865001(G;G)
Reference rs281865001(T;T)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102157978A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032324.1,


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