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rs193302855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a mucolipidosis III gamma mutation
(G;G) 6.1 Mucolipidosis III gamma
ReferenceGRCh38 38.1/141
Chromosome16
Position1362609
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302855
ClinGenrs193302855
ebirs193302855
HLIrs193302855
Exacrs193302855
Varsomers193302855
Maprs193302855
PheGenIrs193302855
hapmaprs193302855
1000 genomesrs193302855
hgdprs193302855
ensemblrs193302855
gopubmedrs193302855
geneviewrs193302855
scholarrs193302855
googlers193302855
pharmgkbrs193302855
gwascentralrs193302855
openSNPrs193302855
23andMers193302855
23andMe allrs193302855
SNP Nexus

SNPshotrs193302855
SNPdbers193302855
MSV3drs193302855
GWAS Ctlgrs193302855
Max Magnitude6.1
ClinVar
Risk Rs193302855(G;G)
Alt Rs193302855(G;G)
Reference Rs193302855(A;A)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412610A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020924.1,