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rs193302851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193302851(-;-)
Make rs193302851(-;C)
Make rs193302851(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362317
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302851
ebirs193302851
HLIrs193302851
Exacrs193302851
Varsomers193302851
Maprs193302851
PheGenIrs193302851
hapmaprs193302851
1000 genomesrs193302851
hgdprs193302851
ensemblrs193302851
gopubmedrs193302851
geneviewrs193302851
scholarrs193302851
googlers193302851
pharmgkbrs193302851
gwascentralrs193302851
openSNPrs193302851
23andMers193302851
23andMe allrs193302851
SNP Nexus

SNPshotrs193302851
SNPdbers193302851
MSV3drs193302851
GWAS Ctlgrs193302851
Max Magnitude0
ClinVar
Risk rs193302851(C;C)
Alt rs193302851(C;C)
Reference rs193302851(;)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412318dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020920.1,