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rs193302848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302848(C;T)
Make rs193302848(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1361760
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302848
ebirs193302848
HLIrs193302848
Exacrs193302848
Varsomers193302848
Maprs193302848
PheGenIrs193302848
hapmaprs193302848
1000 genomesrs193302848
hgdprs193302848
ensemblrs193302848
gopubmedrs193302848
geneviewrs193302848
scholarrs193302848
googlers193302848
pharmgkbrs193302848
gwascentralrs193302848
openSNPrs193302848
23andMers193302848
23andMe allrs193302848
SNP Nexus

SNPshotrs193302848
SNPdbers193302848
MSV3drs193302848
GWAS Ctlgrs193302848
Max Magnitude0
ClinVar
Risk rs193302848(T;T)
Alt rs193302848(T;T)
Reference rs193302848(C;C)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1411761C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020916.1,