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rs281865017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865017(-;-)
Make rs281865017(-;A)
Make rs281865017(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757217
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865017
ebirs281865017
HLIrs281865017
Exacrs281865017
Varsomers281865017
Maprs281865017
PheGenIrs281865017
hapmaprs281865017
1000 genomesrs281865017
hgdprs281865017
ensemblrs281865017
gopubmedrs281865017
geneviewrs281865017
scholarrs281865017
googlers281865017
pharmgkbrs281865017
gwascentralrs281865017
openSNPrs281865017
23andMers281865017
23andMe allrs281865017
SNP Nexus

SNPshotrs281865017
SNPdbers281865017
MSV3drs281865017
GWAS Ctlgrs281865017
Max Magnitude0
ClinVar
Risk rs281865017(A;A)
Alt rs281865017(A;A)
Reference rs281865017(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102150996dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032338.1,


[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.