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

rs281864991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864991(-;-)
Make rs281864991(-;A)
Make rs281864991(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764667
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864991
ebirs281864991
HLIrs281864991
Exacrs281864991
Varsomers281864991
Maprs281864991
PheGenIrs281864991
hapmaprs281864991
1000 genomesrs281864991
hgdprs281864991
ensemblrs281864991
gopubmedrs281864991
geneviewrs281864991
scholarrs281864991
googlers281864991
pharmgkbrs281864991
gwascentralrs281864991
openSNPrs281864991
23andMers281864991
23andMe allrs281864991
SNP Nexus

SNPshotrs281864991
SNPdbers281864991
MSV3drs281864991
GWAS Ctlgrs281864991
Max Magnitude0
ClinVar
Risk rs281864991(A;A)
Alt rs281864991(A;A)
Reference rs281864991(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158446dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032313.1,


[PMID 19659762] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.