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rs281864957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864957(-;-)
Make rs281864957(-;A)
Make rs281864957(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101786065
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864957
ebirs281864957
HLIrs281864957
Exacrs281864957
Varsomers281864957
Maprs281864957
PheGenIrs281864957
hapmaprs281864957
1000 genomesrs281864957
hgdprs281864957
ensemblrs281864957
gopubmedrs281864957
geneviewrs281864957
scholarrs281864957
googlers281864957
pharmgkbrs281864957
gwascentralrs281864957
openSNPrs281864957
23andMers281864957
23andMe allrs281864957
SNP Nexus

SNPshotrs281864957
SNPdbers281864957
MSV3drs281864957
GWAS Ctlgrs281864957
Max Magnitude0
ClinVar
Risk rs281864957(A;A)
Alt rs281864957(A;A)
Reference rs281864957(;)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102179843_102179844insT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032349.1,


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