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rs281864960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864960(A;C)
Make rs281864960(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101786009
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864960
ebirs281864960
HLIrs281864960
Exacrs281864960
Varsomers281864960
Maprs281864960
PheGenIrs281864960
hapmaprs281864960
1000 genomesrs281864960
hgdprs281864960
ensemblrs281864960
gopubmedrs281864960
geneviewrs281864960
scholarrs281864960
googlers281864960
pharmgkbrs281864960
gwascentralrs281864960
openSNPrs281864960
23andMers281864960
23andMe allrs281864960
SNP Nexus

SNPshotrs281864960
SNPdbers281864960
MSV3drs281864960
GWAS Ctlgrs281864960
Max Magnitude0
ClinVar
Risk rs281864960(C,G;C,G)
Alt rs281864960(C,G;C,G)
Reference rs281864960(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102179787T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032350.1,


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