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rs281864995

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864995(-;-)
Make rs281864995(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764373
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864995
ebirs281864995
HLIrs281864995
Exacrs281864995
Varsomers281864995
Maprs281864995
PheGenIrs281864995
hapmaprs281864995
1000 genomesrs281864995
hgdprs281864995
ensemblrs281864995
gopubmedrs281864995
geneviewrs281864995
scholarrs281864995
googlers281864995
pharmgkbrs281864995
gwascentralrs281864995
openSNPrs281864995
23andMers281864995
23andMe allrs281864995
SNP Nexus

SNPshotrs281864995
SNPdbers281864995
MSV3drs281864995
GWAS Ctlgrs281864995
Max Magnitude0
ClinVar
Risk rs281864995(;)
Alt rs281864995(;)
Reference rs281864995(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158151delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032319.1,


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