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rs281865036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865036(A;A)
Make rs281865036(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757211
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865036
ebirs281865036
HLIrs281865036
Exacrs281865036
Varsomers281865036
Maprs281865036
PheGenIrs281865036
hapmaprs281865036
1000 genomesrs281865036
hgdprs281865036
ensemblrs281865036
gopubmedrs281865036
geneviewrs281865036
scholarrs281865036
googlers281865036
pharmgkbrs281865036
gwascentralrs281865036
openSNPrs281865036
23andMers281865036
23andMe allrs281865036
SNP Nexus

SNPshotrs281865036
SNPdbers281865036
MSV3drs281865036
GWAS Ctlgrs281865036
Max Magnitude0
ClinVar
Risk rs281865036(A;A)
Alt rs281865036(A;A)
Reference rs281865036(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102150989C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031983.2,


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