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rs193302857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193302857(-;-)
Make rs193302857(-;T)
Make rs193302857(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362620
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302857
ebirs193302857
HLIrs193302857
Exacrs193302857
Varsomers193302857
Maprs193302857
PheGenIrs193302857
hapmaprs193302857
1000 genomesrs193302857
hgdprs193302857
ensemblrs193302857
gopubmedrs193302857
geneviewrs193302857
scholarrs193302857
googlers193302857
pharmgkbrs193302857
gwascentralrs193302857
openSNPrs193302857
23andMers193302857
23andMe allrs193302857
SNP Nexus

SNPshotrs193302857
SNPdbers193302857
MSV3drs193302857
GWAS Ctlgrs193302857
Max Magnitude0
ClinVar
Risk rs193302857(T;T)
Alt rs193302857(T;T)
Reference rs193302857(;)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412621_1412622insT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020925.1,