Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060499690

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
Position1362044
GeneGNPTG
is asnp
is mentioned by
dbSNPrs1060499690
dbSNP (old)rs1060499690
ClinGenrs1060499690
ebirs1060499690
HLIrs1060499690
Exacrs1060499690
Gnomadrs1060499690
Varsomers1060499690
Maprs1060499690
PheGenIrs1060499690
Biobankrs1060499690
1000 genomesrs1060499690
hgdprs1060499690
ensemblrs1060499690
gopubmedrs1060499690
geneviewrs1060499690
scholarrs1060499690
googlers1060499690
pharmgkbrs1060499690
gwascentralrs1060499690
openSNPrs1060499690
23andMers1060499690
23andMe allrs1060499690
SNPshotrs1060499690
SNPdbers1060499690
MSV3drs1060499690
GWAS Ctlgrs1060499690
Max Magnitude6.1

c.324G>A (p.Trp108Ter)

ClinVar
Risk Rs1060499690(A;A)
Alt Rs1060499690(A;A)
Reference Rs1060499690(G;G)
Significance Probable-Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412045G>A
CLNSRC
CLNACC RCV000449610.1,