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rs121965020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965020(C;T)
Make rs121965020(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position987858
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs121965020
ebirs121965020
HLIrs121965020
Exacrs121965020
Varsomers121965020
Maprs121965020
PheGenIrs121965020
hapmaprs121965020
1000 genomesrs121965020
hgdprs121965020
ensemblrs121965020
gopubmedrs121965020
geneviewrs121965020
scholarrs121965020
googlers121965020
pharmgkbrs121965020
gwascentralrs121965020
openSNPrs121965020
23andMers121965020
23andMe allrs121965020
SNP Nexus

SNPshotrs121965020
SNPdbers121965020
MSV3drs121965020
GWAS Ctlgrs121965020
Max Magnitude0
OMIM252800
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121965020(T;T)
Alt rs121965020(T;T)
Reference rs121965020(C;C)
Significance Pathogenic
Disease Hurler syndrome not provided Mucopolysaccharidosis Mucopolysaccharidosis type 1
Variation info
Gene SLC26A1 IDUA
CLNDBN Hurler syndrome not provided Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.981646C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012684.27, RCV000078386.3, RCV000185562.2, RCV000185563.2, RCV000190595.1,