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rs121965022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965022(A;A)
Make rs121965022(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position987842
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs121965022
ebirs121965022
HLIrs121965022
Exacrs121965022
Varsomers121965022
Maprs121965022
PheGenIrs121965022
hapmaprs121965022
1000 genomesrs121965022
hgdprs121965022
ensemblrs121965022
gopubmedrs121965022
geneviewrs121965022
scholarrs121965022
googlers121965022
pharmgkbrs121965022
gwascentralrs121965022
openSNPrs121965022
23andMers121965022
23andMe allrs121965022
SNP Nexus

SNPshotrs121965022
SNPdbers121965022
MSV3drs121965022
GWAS Ctlgrs121965022
Max Magnitude0
OMIM252800
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121965022(A;A)
Alt rs121965022(A;A)
Reference rs121965022(C;C)
Significance Pathogenic
Disease Hurler syndrome
Variation info
Gene SLC26A1 IDUA
CLNDBN Hurler syndrome
Reversed 0
HGVS NC_000004.11:g.981630C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012689.14,