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rs281864993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864993(-;-)
Make rs281864993(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764495
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864993
ebirs281864993
HLIrs281864993
Exacrs281864993
Varsomers281864993
Maprs281864993
PheGenIrs281864993
hapmaprs281864993
1000 genomesrs281864993
hgdprs281864993
ensemblrs281864993
gopubmedrs281864993
geneviewrs281864993
scholarrs281864993
googlers281864993
pharmgkbrs281864993
gwascentralrs281864993
openSNPrs281864993
23andMers281864993
23andMe allrs281864993
SNP Nexus

SNPshotrs281864993
SNPdbers281864993
MSV3drs281864993
GWAS Ctlgrs281864993
Max Magnitude0
ClinVar
Risk rs281864993(;)
Alt rs281864993(;)
Reference rs281864993(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158273delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032316.1,


[PMID 21416587] A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.