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rs281864986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864986(-;-)
Make rs281864986(-;T)
Make rs281864986(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764917
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864986
ebirs281864986
HLIrs281864986
Exacrs281864986
Varsomers281864986
Maprs281864986
PheGenIrs281864986
hapmaprs281864986
1000 genomesrs281864986
hgdprs281864986
ensemblrs281864986
gopubmedrs281864986
geneviewrs281864986
scholarrs281864986
googlers281864986
pharmgkbrs281864986
gwascentralrs281864986
openSNPrs281864986
23andMers281864986
23andMe allrs281864986
SNP Nexus

SNPshotrs281864986
SNPdbers281864986
MSV3drs281864986
GWAS Ctlgrs281864986
Max Magnitude0
ClinVar
Risk rs281864986(T;T)
Alt rs281864986(T;T)
Reference rs281864986(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158695_102158696insA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032309.1,


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