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rs137852885

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
Position1361954
GeneGNPTG
is asnp
is mentioned by
dbSNPrs137852885
dbSNP (classic)rs137852885
ClinGenrs137852885
ebirs137852885
HLIrs137852885
Exacrs137852885
Gnomadrs137852885
Varsomers137852885
LitVarrs137852885
Maprs137852885
PheGenIrs137852885
Biobankrs137852885
1000 genomesrs137852885
hgdprs137852885
ensemblrs137852885
geneviewrs137852885
scholarrs137852885
googlers137852885
pharmgkbrs137852885
gwascentralrs137852885
openSNPrs137852885
23andMers137852885
SNPshotrs137852885
SNPdbers137852885
MSV3drs137852885
GWAS Ctlgrs137852885
Max Magnitude6.1

c.316G>A (p.Gly106Ser)

23andMe name: i5005420

ClinVar
Risk Rs137852885(A;A)
Alt Rs137852885(A;A)
Reference Rs137852885(G;G)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1411955G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002933.3,