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rs758452450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Mucopolysaccharidosis type 1
(A;G) 3 carrier of one mucopolysaccharidosis type 1 allele
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position987873
GeneIDUA, SLC26A1
is asnp
is mentioned by
dbSNPrs758452450
ebirs758452450
HLIrs758452450
Exacrs758452450
Varsomers758452450
Maprs758452450
PheGenIrs758452450
hapmaprs758452450
1000 genomesrs758452450
hgdprs758452450
ensemblrs758452450
gopubmedrs758452450
geneviewrs758452450
scholarrs758452450
googlers758452450
pharmgkbrs758452450
gwascentralrs758452450
openSNPrs758452450
23andMers758452450
23andMe allrs758452450
SNP Nexus

SNPshotrs758452450
SNPdbers758452450
MSV3drs758452450
GWAS Ctlgrs758452450
Max Magnitude5
aka c.223G>A, p.Ala75Thr or A75T

reported in ClinVar as pathogenic for mucopolysaccharidosis type 1

ClinVar
Risk rs758452450(A;A)
Alt rs758452450(A;A)
Reference rs758452450(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type 1
Variation info
Gene SLC26A1 IDUA
CLNDBN Mucopolysaccharidosis type 1
Reversed 0
HGVS NC_000004.11:g.981661G>A
CLNSRC
CLNACC RCV000208613.1,