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rs281865023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865023(A;G)
Make rs281865023(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796764
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865023
ebirs281865023
HLIrs281865023
Exacrs281865023
Varsomers281865023
Maprs281865023
PheGenIrs281865023
hapmaprs281865023
1000 genomesrs281865023
hgdprs281865023
ensemblrs281865023
gopubmedrs281865023
geneviewrs281865023
scholarrs281865023
googlers281865023
pharmgkbrs281865023
gwascentralrs281865023
openSNPrs281865023
23andMers281865023
23andMe allrs281865023
SNP Nexus

SNPshotrs281865023
SNPdbers281865023
MSV3drs281865023
GWAS Ctlgrs281865023
Max Magnitude0
ClinVar
Risk rs281865023(G;G)
Alt rs281865023(G;G)
Reference rs281865023(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102190542T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031966.2,


[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.