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rs121965029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965029(A;A)
Make rs121965029(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position987916
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs121965029
ebirs121965029
HLIrs121965029
Exacrs121965029
Varsomers121965029
Maprs121965029
PheGenIrs121965029
hapmaprs121965029
1000 genomesrs121965029
hgdprs121965029
ensemblrs121965029
gopubmedrs121965029
geneviewrs121965029
scholarrs121965029
googlers121965029
pharmgkbrs121965029
gwascentralrs121965029
openSNPrs121965029
23andMers121965029
23andMe allrs121965029
SNP Nexus

SNPshotrs121965029
SNPdbers121965029
MSV3drs121965029
GWAS Ctlgrs121965029
Max Magnitude0
OMIM252800
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121965029(A;A)
Alt rs121965029(A;A)
Reference rs121965029(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis Hurler syndrome Mucopolysaccharidosis type 1
Variation info
Gene SLC26A1 IDUA
CLNDBN Mucopolysaccharidosis, MPS-I-H/S Hurler syndrome Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.981704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012697.16, RCV000169784.3, RCV000208598.1,