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rs281865004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865004(C;T)
Make rs281865004(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761613
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865004
ebirs281865004
HLIrs281865004
Exacrs281865004
Varsomers281865004
Maprs281865004
PheGenIrs281865004
hapmaprs281865004
1000 genomesrs281865004
hgdprs281865004
ensemblrs281865004
gopubmedrs281865004
geneviewrs281865004
scholarrs281865004
googlers281865004
pharmgkbrs281865004
gwascentralrs281865004
openSNPrs281865004
23andMers281865004
23andMe allrs281865004
SNP Nexus

SNPshotrs281865004
SNPdbers281865004
MSV3drs281865004
GWAS Ctlgrs281865004
Max Magnitude0
ClinVar
Risk rs281865004(A,T;A,T)
Alt rs281865004(A,T;A,T)
Reference rs281865004(C;C)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102155391G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032326.1,


[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.