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rs483352899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs483352899(-;GTCCT)
Make rs483352899(GTCCT;GTCCT)
ReferenceGRCh38 38.1/142
Chromosome12
Position64729017
GeneGNS
is asnp
is mentioned by
dbSNPrs483352899
dbSNP (classic)rs483352899
ClinGenrs483352899
ebirs483352899
HLIrs483352899
Exacrs483352899
Gnomadrs483352899
Varsomers483352899
LitVarrs483352899
Maprs483352899
PheGenIrs483352899
Biobankrs483352899
1000 genomesrs483352899
hgdprs483352899
ensemblrs483352899
geneviewrs483352899
scholarrs483352899
googlers483352899
pharmgkbrs483352899
gwascentralrs483352899
openSNPrs483352899
23andMers483352899
SNPshotrs483352899
SNPdbers483352899
MSV3drs483352899
GWAS Ctlgrs483352899
Max Magnitude0
ClinVar
Risk rs483352899(GTCCT;GTCCT)
Alt rs483352899(GTCCT;GTCCT)
Reference Rs483352899(-;-)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNS
CLNDBN Mucopolysaccharidosis, MPS-III-D
Reversed 1
HGVS NC_000012.11:g.65122797_65122798insAGGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003069.4,