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rs281864985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864985(G;T)
Make rs281864985(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764918
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864985
ebirs281864985
HLIrs281864985
Exacrs281864985
Varsomers281864985
Maprs281864985
PheGenIrs281864985
hapmaprs281864985
1000 genomesrs281864985
hgdprs281864985
ensemblrs281864985
gopubmedrs281864985
geneviewrs281864985
scholarrs281864985
googlers281864985
pharmgkbrs281864985
gwascentralrs281864985
openSNPrs281864985
23andMers281864985
23andMe allrs281864985
SNP Nexus

SNPshotrs281864985
SNPdbers281864985
MSV3drs281864985
GWAS Ctlgrs281864985
Max Magnitude0
ClinVar
Risk rs281864985(T;T)
Alt rs281864985(T;T)
Reference rs281864985(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158696C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032308.1,


[PMID 19659762] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.