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rs193302852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193302852(-;-)
Make rs193302852(-;C)
Make rs193302852(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362533
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302852
ebirs193302852
HLIrs193302852
Exacrs193302852
Varsomers193302852
Maprs193302852
PheGenIrs193302852
hapmaprs193302852
1000 genomesrs193302852
hgdprs193302852
ensemblrs193302852
gopubmedrs193302852
geneviewrs193302852
scholarrs193302852
googlers193302852
pharmgkbrs193302852
gwascentralrs193302852
openSNPrs193302852
23andMers193302852
23andMe allrs193302852
SNP Nexus

SNPshotrs193302852
SNPdbers193302852
MSV3drs193302852
GWAS Ctlgrs193302852
Max Magnitude0
ClinVar
Risk rs193302852(AC,AG;AC,AG)
Alt rs193302852(AC,AG;AC,AG)
Reference rs193302852(A;A)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412534_1412535insC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020921.1,