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rs281865015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865015(-;-)
Make rs281865015(-;C)
Make rs281865015(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757257
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865015
ebirs281865015
HLIrs281865015
Exacrs281865015
Varsomers281865015
Maprs281865015
PheGenIrs281865015
hapmaprs281865015
1000 genomesrs281865015
hgdprs281865015
ensemblrs281865015
gopubmedrs281865015
geneviewrs281865015
scholarrs281865015
googlers281865015
pharmgkbrs281865015
gwascentralrs281865015
openSNPrs281865015
23andMers281865015
23andMe allrs281865015
SNP Nexus

SNPshotrs281865015
SNPdbers281865015
MSV3drs281865015
GWAS Ctlgrs281865015
Max Magnitude0
ClinVar
Risk rs281865015(C;C)
Alt rs281865015(C;C)
Reference rs281865015(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151035_102151036insG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032361.1,


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