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rs281865019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865019(A;G)
Make rs281865019(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753516
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865019
ebirs281865019
HLIrs281865019
Exacrs281865019
Varsomers281865019
Maprs281865019
PheGenIrs281865019
hapmaprs281865019
1000 genomesrs281865019
hgdprs281865019
ensemblrs281865019
gopubmedrs281865019
geneviewrs281865019
scholarrs281865019
googlers281865019
pharmgkbrs281865019
gwascentralrs281865019
openSNPrs281865019
23andMers281865019
23andMe allrs281865019
SNP Nexus

SNPshotrs281865019
SNPdbers281865019
MSV3drs281865019
GWAS Ctlgrs281865019
Max Magnitude0
ClinVar
Risk rs281865019(G;G)
Alt rs281865019(G;G)
Reference rs281865019(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102147294T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032341.1,


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