Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865005(A;G)
Make rs281865005(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761612
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865005
ebirs281865005
HLIrs281865005
Exacrs281865005
Varsomers281865005
Maprs281865005
PheGenIrs281865005
hapmaprs281865005
1000 genomesrs281865005
hgdprs281865005
ensemblrs281865005
gopubmedrs281865005
geneviewrs281865005
scholarrs281865005
googlers281865005
pharmgkbrs281865005
gwascentralrs281865005
openSNPrs281865005
23andMers281865005
23andMe allrs281865005
SNP Nexus

SNPshotrs281865005
SNPdbers281865005
MSV3drs281865005
GWAS Ctlgrs281865005
Max Magnitude0
ClinVar
Risk rs281865005(G;G)
Alt rs281865005(G;G)
Reference rs281865005(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102155390T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032327.1,


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