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rs281865016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865016(C;T)
Make rs281865016(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757254
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865016
ebirs281865016
HLIrs281865016
Exacrs281865016
Varsomers281865016
Maprs281865016
PheGenIrs281865016
hapmaprs281865016
1000 genomesrs281865016
hgdprs281865016
ensemblrs281865016
gopubmedrs281865016
geneviewrs281865016
scholarrs281865016
googlers281865016
pharmgkbrs281865016
gwascentralrs281865016
openSNPrs281865016
23andMers281865016
23andMe allrs281865016
SNP Nexus

SNPshotrs281865016
SNPdbers281865016
MSV3drs281865016
GWAS Ctlgrs281865016
Max Magnitude0
ClinVar
Risk rs281865016(T;T)
Alt rs281865016(T;T)
Reference rs281865016(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151032G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032361.1,


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