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rs281865000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865000(-;-)
Make rs281865000(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764224
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865000
ebirs281865000
HLIrs281865000
Exacrs281865000
Varsomers281865000
Maprs281865000
PheGenIrs281865000
hapmaprs281865000
1000 genomesrs281865000
hgdprs281865000
ensemblrs281865000
gopubmedrs281865000
geneviewrs281865000
scholarrs281865000
googlers281865000
pharmgkbrs281865000
gwascentralrs281865000
openSNPrs281865000
23andMers281865000
23andMe allrs281865000
SNP Nexus

SNPshotrs281865000
SNPdbers281865000
MSV3drs281865000
GWAS Ctlgrs281865000
Max Magnitude0
ClinVar
Risk rs281865000(;)
Alt rs281865000(;)
Reference rs281865000(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102158002delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032323.1,


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