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rs281864980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864980(A;A)
Make rs281864980(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101766189
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864980
ebirs281864980
HLIrs281864980
Exacrs281864980
Varsomers281864980
Maprs281864980
PheGenIrs281864980
hapmaprs281864980
1000 genomesrs281864980
hgdprs281864980
ensemblrs281864980
gopubmedrs281864980
geneviewrs281864980
scholarrs281864980
googlers281864980
pharmgkbrs281864980
gwascentralrs281864980
openSNPrs281864980
23andMers281864980
23andMe allrs281864980
SNP Nexus

SNPshotrs281864980
SNPdbers281864980
MSV3drs281864980
GWAS Ctlgrs281864980
Max Magnitude0
ClinVar
Risk rs281864980(A;A)
Alt rs281864980(A;A)
Reference rs281864980(G;G)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102159967C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032300.1,


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