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rs7958709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs7958709(G;G)
Make rs7958709(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770477
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs7958709
ebirs7958709
HLIrs7958709
Exacrs7958709
Varsomers7958709
Maprs7958709
PheGenIrs7958709
hapmaprs7958709
1000 genomesrs7958709
hgdprs7958709
ensemblrs7958709
gopubmedrs7958709
geneviewrs7958709
scholarrs7958709
googlers7958709
pharmgkbrs7958709
gwascentralrs7958709
openSNPrs7958709
23andMers7958709
23andMe allrs7958709
SNP Nexus

SNPshotrs7958709
SNPdbers7958709
MSV3drs7958709
GWAS Ctlgrs7958709
GMAF0.01102
Max Magnitude0
? (G;G) (G;T) (T;T) 28
ClinVar
Risk rs7958709(G;G)
Alt rs7958709(G;G)
Reference rs7958709(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 0
HGVS NC_000012.11:g.102164255T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032285.1,



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