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rs199801029

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199801029(C;C)
Make rs199801029(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1002275
GeneIDUA
is asnp
is mentioned by
dbSNPrs199801029
ebirs199801029
HLIrs199801029
Exacrs199801029
Varsomers199801029
Maprs199801029
PheGenIrs199801029
hapmaprs199801029
1000 genomesrs199801029
hgdprs199801029
ensemblrs199801029
gopubmedrs199801029
geneviewrs199801029
scholarrs199801029
googlers199801029
pharmgkbrs199801029
gwascentralrs199801029
openSNPrs199801029
23andMers199801029
23andMe allrs199801029
SNP Nexus

SNPshotrs199801029
SNPdbers199801029
MSV3drs199801029
GWAS Ctlgrs199801029
Max Magnitude0
ClinVar
Risk rs199801029(C;C)
Alt rs199801029(C;C)
Reference rs199801029(G;G)
Significance Pathogenic
Disease not provided Hurler syndrome Mucopolysaccharidosis type 1
Variation info
Gene IDUA
CLNDBN not provided Hurler syndrome Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.996063G>C
CLNSRC HGMD
CLNACC RCV000153376.2, RCV000180108.1, RCV000208605.1,