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

rs281864951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864951(-;-)
Make rs281864951(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796709
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864951
ebirs281864951
HLIrs281864951
Exacrs281864951
Varsomers281864951
Maprs281864951
PheGenIrs281864951
hapmaprs281864951
1000 genomesrs281864951
hgdprs281864951
ensemblrs281864951
gopubmedrs281864951
geneviewrs281864951
scholarrs281864951
googlers281864951
pharmgkbrs281864951
gwascentralrs281864951
openSNPrs281864951
23andMers281864951
23andMe allrs281864951
SNP Nexus

SNPshotrs281864951
SNPdbers281864951
MSV3drs281864951
GWAS Ctlgrs281864951
Max Magnitude0
ClinVar
Risk rs281864951(;)
Alt rs281864951(;)
Reference rs281864951(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102190487delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032304.1,


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