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rs281864974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864974(A;G)
Make rs281864974(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768162
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864974
ebirs281864974
HLIrs281864974
Exacrs281864974
Varsomers281864974
Maprs281864974
PheGenIrs281864974
hapmaprs281864974
1000 genomesrs281864974
hgdprs281864974
ensemblrs281864974
gopubmedrs281864974
geneviewrs281864974
scholarrs281864974
googlers281864974
pharmgkbrs281864974
gwascentralrs281864974
openSNPrs281864974
23andMers281864974
23andMe allrs281864974
SNP Nexus

SNPshotrs281864974
SNPdbers281864974
MSV3drs281864974
GWAS Ctlgrs281864974
Max Magnitude0
ClinVar
Risk rs281864974(G;G)
Alt rs281864974(G;G)
Reference rs281864974(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102161940T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032293.1,


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