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rs1060499691

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/normal
Chromosome16
Position1361802
GeneGNPTG
is asnp
is mentioned by
dbSNPrs1060499691
dbSNP (old)rs1060499691
ClinGenrs1060499691
ebirs1060499691
HLIrs1060499691
Exacrs1060499691
Gnomadrs1060499691
Varsomers1060499691
Maprs1060499691
PheGenIrs1060499691
Biobankrs1060499691
1000 genomesrs1060499691
hgdprs1060499691
ensemblrs1060499691
gopubmedrs1060499691
geneviewrs1060499691
scholarrs1060499691
googlers1060499691
pharmgkbrs1060499691
gwascentralrs1060499691
openSNPrs1060499691
23andMers1060499691
23andMe allrs1060499691
SNPshotrs1060499691
SNPdbers1060499691
MSV3drs1060499691
GWAS Ctlgrs1060499691
Max Magnitude6.1

c.233+5G>A

ClinVar
Risk Rs1060499691(A;A)
Alt Rs1060499691(A;A)
Reference Rs1060499691(G;G)
Significance Probable-Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1411803G>A
CLNSRC
CLNACC RCV000449522.1,