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rs193302854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302854(C;C)
Make rs193302854(C;T)
Make rs193302854(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position1362610
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302854
ebirs193302854
HLIrs193302854
Exacrs193302854
Varsomers193302854
Maprs193302854
PheGenIrs193302854
hapmaprs193302854
1000 genomesrs193302854
hgdprs193302854
ensemblrs193302854
gopubmedrs193302854
geneviewrs193302854
scholarrs193302854
googlers193302854
pharmgkbrs193302854
gwascentralrs193302854
openSNPrs193302854
23andMers193302854
23andMe allrs193302854
SNP Nexus

SNPshotrs193302854
SNPdbers193302854
MSV3drs193302854
GWAS Ctlgrs193302854
Max Magnitude0
ClinVar
Risk rs193302854(C,T;C,T)
Alt rs193302854(C,T;C,T)
Reference rs193302854(G;G)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412611G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020923.1,