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rs193302860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302860(C;T)
Make rs193302860(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1363030
GeneGNPTG, UNKL
is asnp
is mentioned by
dbSNPrs193302860
ebirs193302860
HLIrs193302860
Exacrs193302860
Varsomers193302860
Maprs193302860
PheGenIrs193302860
hapmaprs193302860
1000 genomesrs193302860
hgdprs193302860
ensemblrs193302860
gopubmedrs193302860
geneviewrs193302860
scholarrs193302860
googlers193302860
pharmgkbrs193302860
gwascentralrs193302860
openSNPrs193302860
23andMers193302860
23andMe allrs193302860
SNP Nexus

SNPshotrs193302860
SNPdbers193302860
MSV3drs193302860
GWAS Ctlgrs193302860
Max Magnitude0
ClinVar
Risk rs193302860(T;T)
Alt rs193302860(T;T)
Reference rs193302860(C;C)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG UNKL
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1413031C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020927.1,