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rs142065232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs142065232(A;T)
Make rs142065232(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757236
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs142065232
ebirs142065232
HLIrs142065232
Exacrs142065232
Varsomers142065232
Maprs142065232
PheGenIrs142065232
hapmaprs142065232
1000 genomesrs142065232
hgdprs142065232
ensemblrs142065232
gopubmedrs142065232
geneviewrs142065232
scholarrs142065232
googlers142065232
pharmgkbrs142065232
gwascentralrs142065232
openSNPrs142065232
23andMers142065232
23andMe allrs142065232
SNP Nexus

SNPshotrs142065232
SNPdbers142065232
MSV3drs142065232
GWAS Ctlgrs142065232
Max Magnitude0
ClinVar
Risk rs142065232(T;T)
Alt rs142065232(T;T)
Reference rs142065232(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 0
HGVS NC_000012.11:g.102151014A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032337.1,


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