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rs193302858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302858(-;-)
Make rs193302858(-;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362640
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302858
ebirs193302858
HLIrs193302858
Exacrs193302858
Varsomers193302858
Maprs193302858
PheGenIrs193302858
hapmaprs193302858
1000 genomesrs193302858
hgdprs193302858
ensemblrs193302858
gopubmedrs193302858
geneviewrs193302858
scholarrs193302858
googlers193302858
pharmgkbrs193302858
gwascentralrs193302858
openSNPrs193302858
23andMers193302858
23andMe allrs193302858
SNP Nexus

SNPshotrs193302858
SNPdbers193302858
MSV3drs193302858
GWAS Ctlgrs193302858
Max Magnitude0
ClinVar
Risk rs193302858(;)
Alt rs193302858(;)
Reference rs193302858(T;T)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412641delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020926.1,