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rs193302847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302847(C;C)
Make rs193302847(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362037
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302847
ebirs193302847
HLIrs193302847
Exacrs193302847
Varsomers193302847
Maprs193302847
PheGenIrs193302847
hapmaprs193302847
1000 genomesrs193302847
hgdprs193302847
ensemblrs193302847
gopubmedrs193302847
geneviewrs193302847
scholarrs193302847
googlers193302847
pharmgkbrs193302847
gwascentralrs193302847
openSNPrs193302847
23andMers193302847
23andMe allrs193302847
SNP Nexus

SNPshotrs193302847
SNPdbers193302847
MSV3drs193302847
GWAS Ctlgrs193302847
Max Magnitude0
ClinVar
Risk rs193302847(C;C)
Alt rs193302847(C;C)
Reference rs193302847(G;G)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412038G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020917.1,