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rs281865012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865012(C;C)
Make rs281865012(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760029
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865012
ebirs281865012
HLIrs281865012
Exacrs281865012
Varsomers281865012
Maprs281865012
PheGenIrs281865012
hapmaprs281865012
1000 genomesrs281865012
hgdprs281865012
ensemblrs281865012
gopubmedrs281865012
geneviewrs281865012
scholarrs281865012
googlers281865012
pharmgkbrs281865012
gwascentralrs281865012
openSNPrs281865012
23andMers281865012
23andMe allrs281865012
SNP Nexus

SNPshotrs281865012
SNPdbers281865012
MSV3drs281865012
GWAS Ctlgrs281865012
Max Magnitude0
ClinVar
Risk rs281865012(A,C;A,C)
Alt rs281865012(A,C;A,C)
Reference rs281865012(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153807C>G; NC_000012.11:g.102153807C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032333.1, RCV000031980.2,


[PMID 19617216OA-icon.png] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.


[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.