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rs762411583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762411583(A;A)
Make rs762411583(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position1001672
GeneIDUA
is asnp
is mentioned by
dbSNPrs762411583
dbSNP (classic)rs762411583
ClinGenrs762411583
ebirs762411583
HLIrs762411583
Exacrs762411583
Gnomadrs762411583
Varsomers762411583
LitVarrs762411583
Maprs762411583
PheGenIrs762411583
Biobankrs762411583
1000 genomesrs762411583
hgdprs762411583
ensemblrs762411583
geneviewrs762411583
scholarrs762411583
googlers762411583
pharmgkbrs762411583
gwascentralrs762411583
openSNPrs762411583
23andMers762411583
SNPshotrs762411583
SNPdbers762411583
MSV3drs762411583
GWAS Ctlgrs762411583
Max Magnitude0
ClinVar
Risk rs762411583(A;A)
Alt rs762411583(A;A)
Reference Rs762411583(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type I
Variation info
Gene IDUA
CLNDBN Mucopolysaccharidosis type I
Reversed 0
HGVS NC_000004.11:g.995460G>A
CLNSRC
CLNACC RCV000208601.1,