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rs137852884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6.1 Mucolipidosis III gamma
(A;G) 3 Carrier of a mucolipidosis III gamma mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position1362053
GeneGNPTG
is asnp
is mentioned by
dbSNPrs137852884
dbSNP (classic)rs137852884
ClinGenrs137852884
ebirs137852884
HLIrs137852884
Exacrs137852884
Gnomadrs137852884
Varsomers137852884
LitVarrs137852884
Maprs137852884
PheGenIrs137852884
Biobankrs137852884
1000 genomesrs137852884
hgdprs137852884
ensemblrs137852884
geneviewrs137852884
scholarrs137852884
googlers137852884
pharmgkbrs137852884
gwascentralrs137852884
openSNPrs137852884
23andMers137852884
SNPshotrs137852884
SNPdbers137852884
MSV3drs137852884
GWAS Ctlgrs137852884
Max Magnitude6.1

c.333G>A (p.Trp111Ter)

23andMe name: i5005419

ClinVar
Risk Rs137852884(A;A)
Alt Rs137852884(A;A)
Reference Rs137852884(G;G)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412054G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002931.3,