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

rs281865029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs281865029(-;-)
Make rs281865029(-;GA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764342
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865029
ebirs281865029
HLIrs281865029
Exacrs281865029
Varsomers281865029
Maprs281865029
PheGenIrs281865029
hapmaprs281865029
1000 genomesrs281865029
hgdprs281865029
ensemblrs281865029
gopubmedrs281865029
geneviewrs281865029
scholarrs281865029
googlers281865029
pharmgkbrs281865029
gwascentralrs281865029
openSNPrs281865029
23andMers281865029
23andMe allrs281865029
SNP Nexus

SNPshotrs281865029
SNPdbers281865029
MSV3drs281865029
GWAS Ctlgrs281865029
Max Magnitude0
ClinVar
Risk rs281865029(;)
Alt rs281865029(;)
Reference rs281865029(GA;GA)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102158120_102158121delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000031974.5,


[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.