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

rs281864975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864975(A;A)
Make rs281864975(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768120
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864975
ebirs281864975
HLIrs281864975
Exacrs281864975
Varsomers281864975
Maprs281864975
PheGenIrs281864975
hapmaprs281864975
1000 genomesrs281864975
hgdprs281864975
ensemblrs281864975
gopubmedrs281864975
geneviewrs281864975
scholarrs281864975
googlers281864975
pharmgkbrs281864975
gwascentralrs281864975
openSNPrs281864975
23andMers281864975
23andMe allrs281864975
SNP Nexus

SNPshotrs281864975
SNPdbers281864975
MSV3drs281864975
GWAS Ctlgrs281864975
Max Magnitude0
ClinVar
Risk rs281864975(A;A)
Alt rs281864975(A;A)
Reference rs281864975(G;G)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102161898C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032294.1,


[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.