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rs138390866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138390866(A;A)
Make rs138390866(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761615
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs138390866
ebirs138390866
HLIrs138390866
Exacrs138390866
Varsomers138390866
Maprs138390866
PheGenIrs138390866
hapmaprs138390866
1000 genomesrs138390866
hgdprs138390866
ensemblrs138390866
gopubmedrs138390866
geneviewrs138390866
scholarrs138390866
googlers138390866
pharmgkbrs138390866
gwascentralrs138390866
openSNPrs138390866
23andMers138390866
23andMe allrs138390866
SNP Nexus

SNPshotrs138390866
SNPdbers138390866
MSV3drs138390866
GWAS Ctlgrs138390866
Max Magnitude0
ClinVar
Risk rs138390866(A;A)
Alt rs138390866(A;A)
Reference rs138390866(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 0
HGVS NC_000012.11:g.102155393G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032360.1,


[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.