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rs281865032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865032(-;-)
Make rs281865032(-;T)
Make rs281865032(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761345
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865032
ebirs281865032
HLIrs281865032
Exacrs281865032
Varsomers281865032
Maprs281865032
PheGenIrs281865032
hapmaprs281865032
1000 genomesrs281865032
hgdprs281865032
ensemblrs281865032
gopubmedrs281865032
geneviewrs281865032
scholarrs281865032
googlers281865032
pharmgkbrs281865032
gwascentralrs281865032
openSNPrs281865032
23andMers281865032
23andMe allrs281865032
SNP Nexus

SNPshotrs281865032
SNPdbers281865032
MSV3drs281865032
GWAS Ctlgrs281865032
Max Magnitude0
ClinVar
Risk rs281865032(T;T)
Alt rs281865032(T;T)
Reference rs281865032(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102155123dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000031977.2,


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