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rs281864973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864973(C;C)
Make rs281864973(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770097
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864973
ebirs281864973
HLIrs281864973
Exacrs281864973
Varsomers281864973
Maprs281864973
PheGenIrs281864973
hapmaprs281864973
1000 genomesrs281864973
hgdprs281864973
ensemblrs281864973
gopubmedrs281864973
geneviewrs281864973
scholarrs281864973
googlers281864973
pharmgkbrs281864973
gwascentralrs281864973
openSNPrs281864973
23andMers281864973
23andMe allrs281864973
SNP Nexus

SNPshotrs281864973
SNPdbers281864973
MSV3drs281864973
GWAS Ctlgrs281864973
Max Magnitude0
ClinVar
Risk rs281864973(C;C)
Alt rs281864973(C;C)
Reference rs281864973(T;T)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102163875A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032291.1,


[PMID 19634183] Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.