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rs281864994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864994(-;-)
Make rs281864994(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764490
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864994
ebirs281864994
HLIrs281864994
Exacrs281864994
Varsomers281864994
Maprs281864994
PheGenIrs281864994
hapmaprs281864994
1000 genomesrs281864994
hgdprs281864994
ensemblrs281864994
gopubmedrs281864994
geneviewrs281864994
scholarrs281864994
googlers281864994
pharmgkbrs281864994
gwascentralrs281864994
openSNPrs281864994
23andMers281864994
23andMe allrs281864994
SNP Nexus

SNPshotrs281864994
SNPdbers281864994
MSV3drs281864994
GWAS Ctlgrs281864994
Max Magnitude0
ClinVar
Risk rs281864994(;)
Alt rs281864994(;)
Reference rs281864994(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158268delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032317.1,


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