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rs200646278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200646278(A;A)
Make rs200646278(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770429
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs200646278
ebirs200646278
HLIrs200646278
Exacrs200646278
Varsomers200646278
Maprs200646278
PheGenIrs200646278
hapmaprs200646278
1000 genomesrs200646278
hgdprs200646278
ensemblrs200646278
gopubmedrs200646278
geneviewrs200646278
scholarrs200646278
googlers200646278
pharmgkbrs200646278
gwascentralrs200646278
openSNPrs200646278
23andMers200646278
23andMe allrs200646278
SNP Nexus

SNPshotrs200646278
SNPdbers200646278
MSV3drs200646278
GWAS Ctlgrs200646278
Max Magnitude0
ClinVar
Risk rs200646278(A;A)
Alt rs200646278(A;A)
Reference rs200646278(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 0
HGVS NC_000012.11:g.102164207G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032286.1,


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