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rs193302849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACA;ACA) 0 common in clinvar
(CAA;CAA) 0 common in clinvar
Make rs193302849(-;-)
Make rs193302849(-;ACA)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362067
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302849
ebirs193302849
HLIrs193302849
Exacrs193302849
Varsomers193302849
Maprs193302849
PheGenIrs193302849
hapmaprs193302849
1000 genomesrs193302849
hgdprs193302849
ensemblrs193302849
gopubmedrs193302849
geneviewrs193302849
scholarrs193302849
googlers193302849
pharmgkbrs193302849
gwascentralrs193302849
openSNPrs193302849
23andMers193302849
23andMe allrs193302849
SNP Nexus

SNPshotrs193302849
SNPdbers193302849
MSV3drs193302849
GWAS Ctlgrs193302849
Max Magnitude0
ClinVar
Risk rs193302849(;)
Alt rs193302849(;)
Reference rs193302849(CAA;CAA)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412068_1412070delACA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020918.1,